##fileformat=VCFv4.2
##fileDate=2026-04-04
##reference=GRCh38
##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record">
##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation">
##INFO=<ID=START,Number=1,Type=Integer,Description="Start position of the variant described in this record">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##INFO=<ID=classification,Number=1,Type=String,Description="The consensus classification from the VUS-task-force. Either 1 (benign), 2 (likely benign), 3 (uncertain), 4 (likely pathogenic) or 5 (pathogenic)">
##INFO=<ID=comment,Number=1,Type=String,Description="The comment of the VUS-task-force for the consensus classification">
##INFO=<ID=criteria,Number=.,Type=String,Description="The criteria selected by the VUS-task-force for the consensus classification. A $ separated list with the Format: criterium_name+criterium_strength+criterium_evidence+state">
##INFO=<ID=date,Number=1,Type=String,Description="The date when the consensus classification was submitted. FORMAT: %Y-%m-%d %H:%M:%S">
##INFO=<ID=scheme,Number=1,Type=String,Description="The classification scheme which was used to classify the variant.">
##INFO=<ID=source,Number=1,Type=String,Description="The source of the classification. Either heredivar or heredicare">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
chr17	7674230	72391	C	A	.	.	classification=5;comment=;criteria=ClinGen_ACMG_TP53_v2.4.0|5|PS3+strong_pathogenic+Kato,_Kotler,_Funk:_LOF_Giacomelli:_LOF_according_to_TP53_guideline_2.4.0:_Kato_and_majority_of_eligible_assays_LOF+selected$PS4+medium_pathogenic+-_In_family_3,_II-1,developed_soft_tissue_sarcoma_at_age_58%3B_III-1,_osteosarcoma_at_age_11%3B_and_III-2,_osteosarcoma_at_age_19._III-2:_variant_G245C,_other_familiy_members_not_testet_->_0,5_points_(PMID:_1978757)__Mutation_Variant_Database:_Germline_variant_3x_LFS_(3P),_4x_Chompret_(2P)_%1Y_5P_-_11-year-old_boy_with_ACC_->_0,5_points_(PMID:_25584008)+selected$PM1+medium_pathogenic+Mutational_Hotspot_(AS_245)_and_22x_cancerhotspots+selected$PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v4.1.0)+selected$PM5+medium_pathogenic+c.733G>A_(p.Gly245Ser)_pathogenic_(VCEP_curated)+selected$PP3+supporting_pathogenic+Align_GVGD_C65,_Bayes_Del_score_0.5982+selected;date=2026-03-13_11:56:07;scheme=ClinGen_ACMG_TP53_v2.4.0;source=heredivar
chr2	214780555	72386	C	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+gnomAF_v4.1.0_Grpmax_Filtering_AF_%1Y_0.000004430_(0.0004%)+selected$PP3+supporting_pathogenic+spliceAI_Donor_Loss_Δ__score:_0.38+selected;date=2026-03-16_15:07:02;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43067610	72384	G	<DEL>	.	.	START=43067610;END=43076616;SVTYPE=DEL;classification=3%2B;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+very_strong_pathogenic+in_frame_deletion_of_exons_13-16_(classical_count),_loss_of_coiled_coil_and_part_of_BRCT_domain+selected;date=2026-03-13_10:05:02;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43063073	72383	A	<DEL>	.	.	START=43063073;END=43077816;SVTYPE=DEL;IMPRECISE;classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+Deletion_of_Exons_13-18_targeting_BRCT_domain_%2B_NMD_predicted+selected$PM2+supporting_pathogenic+absent_from_gnomAD_SVs_/_CNVs_v4.1.0+selected$PM5+strong_pathogenic+specifications_table_4_%2B_appendix_D_(PM5_(PTC)_code_can_only_be_applied_to_germline_variants_that_meet_PVS1_codes,_namely_nonsense_and_frame-shift_changes,_including_large_deletions_and_tandem_duplications)+selected;date=2026-03-24_10:27:45;scheme=ACMG_SVI_adaptation;source=heredivar
chr16	68833498	72039	A	G	.	.	classification=3;source=heredicare
chr2	214745066	70951	CATTCAAATTTTAGAATCCAGCATCCATTGAGAATCCCAAGCATACACTTCAAGGTACTTTGAACTGCATCACCAGGAACAACAACATGAGTTA	C	.	.	START=214745067;END=214745159;SVTYPE=DEL;IMPRECISE;classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Tayoun_et_al._PVS1_decision_tree:_single_exon_deletion_-_preserves_reading_frame_-_altered_region_is_critical_to_protein_function_(BRCT1_domain)_+selected$PM2+supporting_pathogenic+not_in_gnomAD_SV/CNV_or_DGV_Gold+selected$PP4+supporting_pathogenic+Benito-Sanchez_et_al._2022:_in_2_patients_with_ER%2B_Luminal_A_BC,_one_bilateral_case_(Table_1)_+selected;date=2026-03-16_15:25:39;scheme=ACMG_SVI_adaptation;source=heredivar
chr16	23607866	70813	G	<DUP>	.	.	START=23607866;END=23624096;SVTYPE=DUP;IMPRECISE;classification=5;comment=Completely_contained_within_the_WD40_domain:_As_per_PALB2_PVS1_Decision_Tree:_If_DUP_is_proven_in_tandem_-->_PVS1%3B_if_only_presumed_-->_PVS1_STR%3B_PM5_SUP_only_if_proven_in_tandem!;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+Completely_contained_within_the_WD40_domain:_As_per_PALB2_PVS1_Decision_Tree:_If_DUP_is_proven_in_tandem_-->_PVS1_STR%3B_if_only_presumed_-->_PVS1_MOD+selected$PM2+supporting_pathogenic+absent_from_gnomAD_SVs_/_CNVs_v4.1.0_/_dgv_gold_standard+selected$PM5+supporting_pathogenic+NMD_presumed_if_in_tandem+selected;date=2026-02-10_11:08:06;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	35119612	70812	A	G	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Start_loss_variant_in_RAD51D_alternative_start_codon_at_position_16._But_many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PS1+medium_pathogenic+Many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PM2+supporting_pathogenic+not_in_GnomAD_v4+selected;date=2026-02-21_13:57:01;scheme=ACMG_SVI_adaptation;source=heredivar
chr16	68808424	70495	G	<DUP>	.	.	START=68808424;END=68819425;SVTYPE=DUP;IMPRECISE;classification=5;comment=IF_IN_TANDEM!_As_per_CDH1_PVS1_decision_tree:_new_STOP-Codon_at_position_p.610_-->_Predicted_to_undergo_NMD_-->_PVS1_VSTR%3B_If_presumed_PVS1_STR;criteria=ClinGen_ACMG_CDH1_v3.1.0|5|PVS1+very_strong_pathogenic+IF_IN_TANDEM!_As_per_CDH1_PVS1_decision_tree:_new_STOP-Codon_at_position_p.610_-->_Predicted_to_undergo_NMD_-->_PVS1_VSTR+selected$PS4+supporting_pathogenic+Garcia-Pelaez_(2022,_PMID:__36436516):_1x_familiy_fulfilling_2020_HDGC_criteria+selected$PM2+supporting_pathogenic+absent_from_dgv_gold_standard_/_gnomAD_SVs/CNVs_v4.1.0+selected$PM5+supporting_pathogenic+out-of-frame_duplication_is_expected_to_result_in_a_PTC_upstream_of_c.2506G>T_p.(Glu836*)_(PTC_is_expected_38_aa_upstream_p.571)+selected;date=2026-02-10_11:15:03;scheme=ClinGen_ACMG_CDH1_v3.1.0;source=heredivar
chr17	58709877	70302	G	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+medium_pathogenic+Olvera-Leon_et_al_(PMID:_39299233):_fast_depleted_(suppl._tabel_6)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected$PP3+supporting_pathogenic+REVEL_%1Y_0.915_(thus_>_0.7333)+selected;date=2026-02-10_11:57:23;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28689137	70030	GGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTG	G	.	.	START=28689138;END=28689218;SVTYPE=DEL;IMPRECISE;classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+strong_pathogenic+according_to_Tayoun_et_al._2018_Hum_Mutat,_PMID:_30192042_(in-frame-deletion_-->_region_is_critical_to_protein_function)+selected;date=2026-03-10_11:22:24;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43094861	70028	C	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PVS1+medium_pathogenic+according_to_specifications_Table_4_v.1.2_(VCEP_BRCA1_Version_1.2.0)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PP4+supporting_pathogenic+Combined_LR_2,9__PMIDs:_31131967,31853058+selected;date=2026-02-10_11:54:38;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	61743120	69626	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+2x_in_gnomAD_v.4_+selected$BP4+supporting_benign+REVEL:_0.188+selected;date=2026-01-13_11:57:07;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7669689	69206	G	A	.	.	classification=3;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|2|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PP4+supporting_pathogenic+At_least_one_individual_with_this_variant_was_found_to_have_a_variant_allele_fraction_of_≤35%,_which_is_a_significant_predictor_of_variant_pathogenicity_(PMID:_34906512,_Internal_lab_contributor:_Ambry)+selected$BP4+supporting_benign+ClinGen_TP53_Variant_Curation_Expert_Panel_(1/25):_BayesDel_≤_-0.008_and_an_Align_GVGD_Class_≤_55),_evidence_that_does_not_predict_a_damaging_effect_on_TP53_via_protein_change._SpliceAI_predicts_that_the_variant_has_no_impact_on_splicing->_gemäß_ClinGen_1/25_BP4_mod+selected$BS2+supporting_benign+This_variant_has_been_observed_in_2-3_heterozygous_unrelated_females_from_the_same_data_source_with_no_personal_history_of_cancer_prior_to_age_60_years_and_no_personal_history_of_sarcoma_at_any_age_(_Internal_lab_contributor)+selected;date=2026-01-16_11:05:00;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr13	32379848	68787	A	G	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+strong_pathogenic_Huang_(2025,_PMID:_39779857)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4+selected$PP3+supporting_pathogenic+spliceAI_Acceptor_Loss_0.26_(-47_bp)%3B_Donor_Loss_0.30_(65_bp)%3B_Acceptor_Gain_0.04_(-98_bp)%3B_Donor_Gain_0.83_(0_bp)_+selected$PP4+supporting_pathogenic+Combined_LR_2,4_(Parsons_2019_PMID:_31131967__Fam_1,21%3B_Co-Occurrence_1,08%3B_Li_2020_PMID:_31853058_Fam_1,87)+selected;date=2025-12-09_12:00:56;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr11	108309080	68219	A	G	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|3|PVS1+medium_pathogenic+mod?_PMID_39271294:_nur_ca_46%_aberrantes_Transkript_vonm_Allel:_long-read_cDNA_analysis_with_high_coverage_of_ATM_yielded_23%_of_transcripts_with_the_pseudoexon_and_77%_normal_transcripts,_suggesting_that_the_variant_allele_produced_both_aberrant_and_normal_transcripts_in_approximately_equal_numbers_(∼46%_vs._∼54%)+selected;date=2025-11-18_11:03:31;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr22	28699839	68196	TGCACAGCCAAGAGCATCTGGTAAAAATAGAGCTTGCAGGTAGCTTCTTTCAGGCGTTTATTCCCCACCACTTTGTCAAACAGCTCTCCCCCTTCCATCCTG	T	.	.	START=28699840;END=28699940;SVTYPE=DEL;IMPRECISE;classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+out_of_frame_deletion+selected$PM2+supporting_pathogenic+not_in_gnomAD4_SV_or_CNV+selected;date=2025-12-09_13:07:34;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108257097	67954	TCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACTTCTAAAAACATTTCATTTTTTCTCTTAAGTGCACTTTATTTTTTATTTTATAGTATGTCCAAGATCAAAGTACACTGTAAAAAGCAATACTAAACTATAATTTTAACTGGAATTTGCATTTTTCCTTCTATTCACAATAGTCTCTAATGCAATGTGCAGGAGAAAGTATCACTCTGTTTAAAAATAAGACA	TT	.	.	classification=3%2B;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|3|PVS1+strong_pathogenic+ATM_ClinGen_PVS1_decision_tree+selected$PM2+supporting_pathogenic+not_in_gnomAD_V4+selected;date=2025-11-18_11:06:53;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr17	61808568	67924	T	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+gnomADv3:_absent_//_gnomAD_v4:_1/1613748_allels+selected;date=2025-12-04_12:16:21;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108297286	67923	GATAATCCGCAAGATGGGATTATGGTGAAACTAGTTGTCAATTTGTTGCAGTTATCCAAGATGGCAATAAACCACACTGGTGAAAAAGAAGTTCTAG	G	.	.	START=108297287;END=108297382;SVTYPE=DEL;IMPRECISE;classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+ATM_PVS1_decision_tree:_single_exon_deletion_->_preserves_reading_frame_->_altered_region_critical_for_protein_function_(1_exon_in_HEAT_repeats_2-38)_->_PVS1_str+selected$PM2+supporting_pathogenic+absent_from_gnomAD_V4_CNV+selected$PM3+supporting_pathogenic+die_PMID:_9600235_-PMID:_9600235_-_Homozygous_in_AT_patient,_described_as_c.4910del96_(Del_exon_35)_(%1Y>_1_Punlt,_PM3-supp)_und_in_dessen_sibling_leider_ist_nichts_zu_AT-Phänotyp_beschreiben_%1Y>_kann_man_trotzdem_consistent_nehmen?+selected$PP1+supporting_pathogenic+hom_in_2_Geschwistern_mit_AT_The_4910del96_mutation_associated_with_a_loss_of_exon_35_found_in_the_two_A-T_sibs,_AT3KY_and_AT4KY,_was_attributed_to_a_large_genomic_deletion_auch_hier:_Phenotype_consistens?_Ist_nichts_zu_Phänotyp_beschreiben+selected;date=2025-11-18_11:13:21;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32338762	67295	CATAA	CTT	.	.	classification=5;source=heredicare
chr17	58709860	67184	TTCGACTAGTGATAGTGGATGGTATTGCTTTTCCATTTCGTCATGACCTAGATGACCTGTCTCTTCGTACTCGGTTATTAAATGGCCTAGCCCAGCAAATGATCAGCCTTGCAAATAATCACAGATTAGCTGT	T	.	.	START=58709861;END=58709992;SVTYPE=DEL;IMPRECISE;classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+exon_deletion,_loss_of_>10%_of_the_protein_(44_aa)_(according_to_CanVIG)_+selected$PM2+supporting_pathogenic+rare/absent+selected;date=2025-12-09_12:41:16;scheme=ACMG_SVI_adaptation;source=heredivar
chr3	36993547	66910	AATGTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAACTG	A	.	.	classification=5;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|5|PVS1+very_strong_pathogenic+deletion_of_exon_1+selected$PM2+supporting_pathogenic+absent_from_dgv_gold_standard_/_gnomAD_CNVs_/_SVs_4.1.0+selected$PP4+strong_pathogenic+Cini_(2015,_PMID:_25742745):_Presence_of_a_heterozygous_deletion_in_4_affected_individuals,_comprising_exon_1_and_part_of_the_promoter_(997_bp-deletion_(c.-168_c.116%2B713del))_-->_associated_with_constitutional_promoter_methylation_in_cis%3B_excluded_the_presence_of_the_somatic_p.Val600Glu_mutation_of_the_BRAF_gene%3B_tumors_of_proband,_her_dead_brother_and_of_two_cousins_were_not_expressing_MLH1_protein_and_showed_MSI-H_(promotor_methylation_in_of_tumor_DNA_was_excluded)_-->_4P_Barnetson_(2006,_PMID:_16807412):_MSI-H_Tumor_%2B_Loss_of_MLH1_on_IHC_-->_1_P+selected;date=2025-11-17_19:34:54;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr13	32341217	65923	T	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected$BP4+supporting_benign+spliceAI:_0.01+selected$BP7+supporting_benign+Intronic_variant_located__beyond_positions_%2B7/-21,_BP4_met.+selected;date=2025-11-17_19:47:27;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	61776362	64862	A	<DEL>	.	.	START=61776362;END=61784466;SVTYPE=DEL;IMPRECISE;classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Deletion_of_Exon_11-14%3B_Loss_of_critical_regions_of_the_helicase_including_motifs_II_and_IV_that_are_essential_for_helicase_function%3B_There_are_missense_mutations_in_the_affected_region_that_show_loss_of_activity_in_functional_assays_and/or_are_associated_with_Ovarian_cancer_and/or_FA+selected$PM2+supporting_pathogenic+present_in_1/326266_alleles_in_NFE_in_gnomAD_v4.1.0_CNV+selected$PP3+supporting_pathogenic+CADD-SV_Phred_score_>20%3B_AnnotSV_pathogenic+selected;date=2025-09-09_10:49:53;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	47482848	64857	G	T	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0|3|PVS1+medium_pathogenic+Nonsense/frameshift_variant_introducing_premature_termination_codon_between_codons_892_%26_934_in_MSH2+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4.1+selected;date=2025-11-17_19:30:42;scheme=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0;source=heredivar
chr2	47416357	64105	C	T	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0|3|PM2+supporting_pathogenic+MAF%1Y_0.00018%_(thus_<1/50000)+selected$PP3+medium_pathogenic+HCI_prior_probability_for_pathogenicity_%1Y_0.90_(thus_>0.81)+selected$BS3+strong_benign+Jia_(2021,_PMID:_33357406):_Final_functional_classification_%1Y_Neutral+selected;date=2025-08-12_15:28:34;scheme=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0;source=heredivar
chr17	58695125	64103	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Hu_et_al._damaging_in_all_assays_PMID:_37253112_,_Olvera-León_R__(MAVE)_fast_depleted,_(PMID:_39299233)+selected$PM2+supporting_pathogenic+GnomAD_v4:_FAF:_0,001064%%3B_5/1.613.928+selected$PP3+supporting_pathogenic+REVEL:_0.855+selected;date=2025-08-12_10:41:52;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7674876	64101	GCAC	G	.	.	classification=4;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|4|PS3+medium_pathogenic+Funk_et_al._PMID:_39774325_deleterious+selected$PS4+supporting_pathogenic+This_variant_has_been_reported_in_an_individual_meeting_Chompret_criteria_for_Li_Fraumeni_syndrome_(Saucier_E_et_al._Pediatr_Blood_Cancer,_2024_Dec%3B71:e31362)_->_PS4:_we_recommend_that_probands_with_TP53_germline_variants_meeting_Revised_Chompret_should_be_given_0.5_point_(…)_->_PS4_sup+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected$PP3+supporting_pathogenic+BayesDel_%1Y_0.6431_(thus_>_0.16)+selected$PP4+supporting_pathogenic+This_variant_was_detected_in_at_least_one_individual_at_an_allele_fraction_that_is_suggestive_of_clonal_hematopoiesis,_a_predictor_of_TP53_pathogenicity_(Ambry_internal_data%3B_Fortuno_C_et_al._Genet_Med._2022_03%3B24:673-680)+selected;date=2025-08-12_11:53:37;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	58709859	63470	G	<DEL>	.	.	START=58709859;END=58734222;SVTYPE=DEL;classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+large_deletion_including_complete_c-termnius_+selected$PS4+strong_pathogenic+14_families_in_Cologne_index_patients_9X_OC_5X_early_onset_BC_Schnurbein_(2013,_PMID:_24359560):_Family_%231:_DEL_carrier_early-onset_and_bilateral_BC_(age_33_years,_age_39_years)_%26_mother_with_colon_cancer_(age_44)%3B_Family_%232:__identified_in_dizygotic_twins,_one_affected_by_early-onset_BC_(age_42)_and_one_by_early-onset_OC_(age_43_years)%3B_Schubert_(2019,_PMID:_30426508):_invasive_ductal_BC:ER%2BPR-,HER2%2B_(age_41)%3B_Carter_(2018,_PMID:_30322717):_OvCA%3B_Schroeder_(2023,_PMID:_37507557):_patient_with_alveolar_rhabdomyosarcoma_(age_3.6_%2BFusion_MAML2-PAX3),_variant_was_inherited_from_the_patient’s_father_but_family_history_was_unsuspicious_for_other_RAD51C-associated_tumours._Lilyquist_(2017,_PMID:_28888541):_OvCA%3B_Yang_(2020,_PMID:_32107557):_12_Families_(BrCA_/_OvCA)_+selected;date=2025-08-12_11:01:54;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32329493	63468	G	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3+selected$PP4+supporting_pathogenic+Combine_LR-Score_%1Y_2.09725_(as_per_UCSC_ENIGMA_BRCA1/BRCA2_specs_1.1.0_Track_Hub)+selected;date=2025-08-12_15:59:30;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr16	23629277	63467	T	C	.	.	classification=4;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|4|PVS1+very_strong_pathogenic+PVS1_list_C_(ClinGen):_PVS1_O_very_strong,_NMD_escaping:_in-frame,_functional_critical+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected;date=2025-08-12_16:09:49;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr7	5989800	63462	C	<DEL>	.	.	START=5989800;END=6009019;SVTYPE=DEL;IMPRECISE;classification=5;comment=;criteria=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0|5|PVS1+very_strong_pathogenic+multi_exon_deletion+selected$PP4+medium_pathogenic+2_independent_CRC/Endometrial_MSI-H_tumors:_Rahner_et_al.,_2007_%2B_internal_data:_Endometrial_MSI-high_tumor+selected;date=2025-08-13_08:56:12;scheme=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0;source=heredivar
chr2	214780565	62865	T	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+gnomAD_v4.1.0_MAF_%1Y_0.000009916_(%1Y_0.0009916%,_thus_<_0.001%)+selected$BP1+supporting_benign+missense_variant_in_a_gene_where_primarily_truncating_variants_cause_disease+unselected$BP4+supporting_benign+REVEL:_0,157,_SpliceAI:0.04+selected;date=2025-10-14_12:23:38;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43067648	62827	ATTAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32394716	62735	A	G	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PS3+strong_pathogenic+Reported_by_two_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:29988080,_33609447)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected;date=2025-08-12_12:11:21;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	61780325	62733	G	T	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+Tayoun_(2018,_PMID:_30192042):_Nonsense_or_Frameshift-->_Predicted_to_undergo_NMD_-->_Exon_is_present_in_biologically-relevant_transcript(s)+selected$PS4+supporting_pathogenic+Multiple_literature_reports_listing_individuals_affected_with_breast-_and/or_ovarian_cancer_carrying_mutation_(e.g._Kanchi_(_2014,_PMID:_24448499),_LaDuca_(2014,_PMID:_24763289),_Ramus_2015_(PMID:_26315354),_Thompson_(2016,_PMID:_26786923),_Huang_(2018,_PMID:_29625052))+selected;date=2025-08-13_12:25:21;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7675017	62326	ACCAGCCCTGTCGTCTCT	A	.	.	classification=3;comment=RNA-Analysen_in_Würzburg_nicht_aussagekräftig,_ggf._wiederholen._Evtl._Tumoranalysen_Daten_vor_veröffentlichung_in_ClinVar_abwarten!;criteria=ClinGen_ACMG_TP53_v1.4.0|3|PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2025-07-09_13:01:03;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr2	214745812	62243	C	G	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+not_in_gnomAD+selected$PP3+supporting_pathogenic+REVEL_%1Y_0.722_(thus_[0.644,_0.773),_as_per_Pejaver_2022,_PMID:_36413997)+selected;date=2025-07-09_12:34:40;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	58734135	61677	T	TA	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+medium_pathogenic+Olvera-Leon_et_al,_Cell_2024:__p.Asp348TyrfsTer44:_fast_depleted%3B_p.Thr349LeufsTer15:_slow_depleted%3B_p.Val350LeufsTer14:_unchanged%3B_p.Ser353HisfsTer8:_unchanged+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected;date=2025-07-09_14:27:03;scheme=ACMG_SVI_adaptation;source=heredivar
chr16	68828155	61669	G	T	.	.	classification=3-;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3%3B_gnomAD_v4.1.0_Grpmax_Filtering_AF_%1Y_2.800e-7+selected$BP4+supporting_benign+three_in_silico_splicing_predictors_(SliceAI,_SSF,_MaxEntScan)_in_agreement:_no_observes_splicing_defect+selected;date=2025-07-08_11:43:12;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43063335	61343	C	<DUP>	.	.	START=43063335;END=43124117;SVTYPE=DUP;classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|BS2+supporting_benign+Du_(2018,_PMID:_30191368):_detected_in_trans_to_a_known_pathogenic_Ex_15_DEL_in_absence_of_features_of_recessive_disease,_namely_Fanconi_Anemia_phenotype+selected;date=2025-08-12_16:29:15;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32362588	60994	A	G	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PS3+strong_pathogenic+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMID:33609447)_(PS3_met).+selected$PP3+supporting_pathogenic+BayesDel_no-AF_score_>%1Y0.30+selected;date=2025-06-10_11:07:57;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	61707756	60354	T	C	.	.	classification=3;comment=spliceAI%1Y0,_ABER_maxEntScan_high._In_2_HBOC_Familien_in_Tübingen_gefunden._RNA-Analysen_abwarten!!!;criteria=ACMG_SVI_adaptation|2|PM2+supporting_pathogenic+not_in_gnomAD_(V4)+selected$BP4+supporting_benign+spliceAI%1Y0,_ABER_maxEntScan_high_+selected$BP7+supporting_benign+Intronic_variants_located_at_or_beyond_positions_%2B7/-21+selected;date=2025-06-10_11:33:30;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	47800910	60274	G	A	.	.	classification=3%2B;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0|3|PS3+supporting_pathogenic+47%_repair_activity_in_in_vitro_MMR_complementation_assay_Drost_et_al.,_2011._Reduced_ATP_binding_%26_reduced_mismatch_binding_Cyr_et_al.,_2008_1_x_hom_in_CMMR-D_(Ambry_internal_data)%3B+selected$PM2+supporting_pathogenic+rare_(<1_in_50,000_alleles)_in_gnomAD_v4_dataset+selected$PP4+medium_pathogenic+Plaschke_(2002,_PMID:_11807791)_MSH-H%3B_Tumour_IHC_MSH6:_absent_-->_1P_Salvador_(2019,_PMID:_30702970):_IHC_MSH6:_absent_-->_1P_Li_(2020,_PMID:_31391288,_listed_in_S1,_Table_S4):_computed_the_tumour_characteristic_LR_(TCLR)%3B_"To_avoid_overestimation_of_TCLR,_for_variants_in_each_MMR_gene,_only_patients_with_loss_of_protein_expression_consistent_with_the_gene(s)_of_interest_in_the_presence_of_abnormal_MSI/IHC_status_were_included_in_the_TCLR_calculation._For_example,_when_evaluating_PMS2_variants,_only_carriers_with_loss_of_PMS2_expression_were_included_for_patients_who_had_abnormal_MSI/IHC_status."_-->_1P+selected$BP4+supporting_benign+HCI-prior_probability_of_pathogenicity_%1Y_0.10_(thus,<0.11)+selected;date=2025-07-09_12:15:26;scheme=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0;source=heredivar
chr17	61847101	55859	T	<DUP>	.	.	START=61847101;END=61861539;SVTYPE=DUP;IMPRECISE;classification=3;comment=In_frame_duplication_of_exons_2-6_frameshift;criteria=ACMG_SVI_adaptation|3|PVS1+strong_pathogenic+In_frame_duplication_of_exons_2-6_frameshift_stop_due_to_UTR+selected;date=2025-04-08_11:49:03;scheme=ACMG_SVI_adaptation;source=heredivar
chr3	37001052	54223	A	C	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|3|PM2+supporting_pathogenic+not_in_gnomAD_v4.1.0+selected$PP3+medium_pathogenic+PRIOR:_0.90_%3B_SpliceAI:_0.35_+selected;date=2025-04-07_20:04:40;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr17	43126176	54221	T	<DEL>	.	.	START=43126176;END=43130083;SVTYPE=DEL;classification=3;comment=Keine_Kriterien_anwendbar._5'UTR-Region_vor_Exon_1,_die_auch_Teile_des_Promotors_(chr17:43,124,247-43,127,556)_umfasst._RNA-Analyse_wäre_hilfreich;criteria=ACMG_SVI_adaptation|3|;date=2025-04-07_20:31:47;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108258984	54220	A	G	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|PVS1+strong_pathogenic+SpliceAI:_Δ-score_AL:_0.99_VCEP-ATM_PVS1_Strong_(List_B)_+selected$PM2+supporting_pathogenic+Frequency_≤.001%_if_n%1Y1,_2x_in_gnomADv4,_2_different_sub_populations+selected;date=2025-04-02_16:08:16;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	61801254	54216	CTTTCCCTTATTTGTGCATCTAGAAGATAGTTGTAGGGACAAAATATGATGTCAGCATCTTGTATTAGTTCTCGGGCTGTGTAATATGGACAGGCCTTTAGTTTCTTCCCCAGGCTGACAAGTTCTTCTATATCCCAGGCTTTGCACATCCCTTGGAAAGTCTGTAATGTGTGCTGATCACTAATTTTATGAACTCCATGATAAAAATAGCAGGATTTTCC	C	.	.	START=61801255;END=61801474;SVTYPE=DEL;classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Tayoun:_Deletion_single_Exon,_preserves_reading_frame,_altered_region_is_critical_to_protein_function_-_PVS1_str+selected$PS4+supporting_pathogenic+case_counting:_e.g._Carter_2018_PubMed:_30322717,_ClinVar_Variation_ID:_188251,_internal_data_base+selected$PM5+supporting_pathogenic+truncated_/_altered_region_is_critical_for_protein_function_(DEAD2-Domain)+selected;date=2025-04-08_11:40:03;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43106504	52465	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$BS3+strong_benign+VCEP_Table_9:_Missense_variant_predicted_to_alter_splicing,_functional_data_considered_only_from_assays_that_measure_effect_via_mRNA_and_protein._Reported_by_one_calibrated_study_incorporating_mRNA_splicing_effects_to_exhibit_function_similar_to_benign_control_variants_(PMID:30209399)_(BS3_met).+selected;date=2025-03-11_16:20:03;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr11	108326039	52463	T	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|PM2+supporting_pathogenic+Absent_from_GnomAD_v4.1.0_+selected$BP4+supporting_benign+SpliceAI_score_≤0.1+selected;date=2025-04-02_16:09:21;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr13	32370448	52458	G	T	.	.	classification=4;comment=Sahu_(2025,_PMID:_39779848):_Function_Score:_-2,012945185_(Classified_as_Likely_Pathogenic_with_PS3,_PM2_SUP,_PP3_STR);criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+Sahu_et_al._PMID:_39779848,_Richardson_et_al._PMID:33609447+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected$PP3+supporting_pathogenic+BayesDel_no-AF_score_%1Y_0.589365_SpliceAI_Acceptor_Gain_%1Y_0.36+selected;date=2025-04-02_14:07:42;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43063950	51454	A	T	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|4|PS3+strong_pathogenic+Missense_variant_predicted_to_alter_splicing,_functional_data_considered_only_from_assays_that_measure_effect_via_mRNA_and_protein._Reported_by_one_calibrated_study_incorporating_mRNA_splicing_effects_to_exhibit_function_similar_to_pathogenic_control_variants_(PMID:30209399)_(PS3_met).+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PP3+supporting_pathogenic+Splice_AI_AL_%1Y0.31_%26_DL_%1Y0.24+selected;date=2026-02-10_11:50:35;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr22	28695735	51033	TCCAGCAGTCCACAGCACGGTTATAC	T	.	.	classification=5;source=heredicare
chr17	43048720	48040	CATGTTGGCCAGGCTGGTCTCAAACTCCTGACAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGGAGGGGGAGGGACATATGGGAAAAAGAGTTAGAGGGAAAAAGTCTTCCCTCAGTATATTTAATATGTGCAGTTCTCAAATCCTTACCCATCCCTTACAGATGGAGTCTTTTGGCACAGGTATGTGGGCAGAGAAGACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTA	C	.	.	classification=5;source=heredicare
chr22	28699869	45217	A	G	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+strong_pathogenic+Stolarova_et_al.:_Damaging_(KAP1,_CHK2_category)_Boonen_et_al.2022:_Damaging,_Table_S1_Delimitsou_%2B_Kleiblova:_Damaging+selected$PM2+supporting_pathogenic+not_in_gnomAD_v4+selected;date=2025-09-09_12:13:04;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43099836	44232	C	T	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|BP1+strong_benign+synonymous_variant_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected;date=2025-02-18_14:31:27;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43045683	44194	A	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|PM2+supporting_pathogenic+absent_from_gnomAD_v3/2_(as_per_BRCA_Exchange:_This_variant_is_absent_from_gnomAD_v2.1_(exomes_only,_non-cancer_subset,_read_depth_≥25)_and_gnomAD_v3.1_(non-cancer_subset,_read_depth_≥25)_(PM2_SUP_met).)+selected$BP1+strong_benign+SpliceAI%1Y0,_outside_a_(potentially)_clinically_important_functional_domain+selected$BP5+medium_benign+_Li_2021_Combined_LR:_0.05786__UCSC_Genome_Browser_ENIGMA_BRCA1/BRCA2_specs_1.1.0_Track+selected;date=2025-02-18_14:33:56;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr22	28696901	44186	C	<DEL>	.	.	START=28696901;END=28699937;SVTYPE=DEL;classification=5;comment=Deletion_of_exons_9_and_10_found_im_more_than_350_families_from_GC-HBOC;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+single_to_multi_exon_deletion_-->_disrupts_reading_frame_and_is_predicted_to_undergo_NMD_-->_Exons_are_present_in_biologically-relevant_transcripts+selected$PS4+strong_pathogenic+Cybulski_(2006,_PMID:_16897426):_In_a_large_case-control_study_including_4,454_breast_cancer_cases_and_5,496_control_individuals_from_Poland,_the_del5395_deletion_was_reported_to_be_associated_with_a_2-fold_increased_risk_of_breast_cancer_in_women_(OR%1Y2.0,_95%_CI:_1.2-3.4%3B_present_in_0.4%_of_the_controls,_in_1.0%_(19_of_1,978)_of_unselected_breast_cancer_cases)__%26_present_in_0.9%_(28_of_3,228)_of_the_early-onset_cases_(OR%1Y2.0%3B_95%_CI:_1.3-1.8%3B_p_%1Y_0.02)+selected;date=2025-08-13_11:37:14;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	214780794	44174	A	G	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|PM2+supporting_pathogenic+absent_in_gnomAD_4+selected$BP4+supporting_benign+SpliceAI_no_impact_on_splicing+selected$BP7+supporting_benign+synonymous_variant_for_which_splicing_prediction_algorithms_predict_no_impact_to_the_splice_consensus_sequence_nor_the_creation_of_a_new_splice_site_AND_the_nucleotide_is_not_highly_conserved.+selected;date=2025-01-14_10:30:26;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	214728910	44173	G	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|PM2+supporting_pathogenic+gnomAD_v.4:_6.195e-7+selected$BP4+supporting_benign+spliceAI:_0.0+selected$BP7+supporting_benign+synonymous,_not_conserved_nucleotide_(phyloP:_-0.52)+selected;date=2025-01-14_10:28:41;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108267161	44153	T	<DUP>	.	.	START=108267161;END=108354884;SVTYPE=DUP;IMPRECISE;classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM3+strong_pathogenic+Invitae:_Martin-Rodriguez,_2019_(PMID:_30888062):_Found_in_trans_with_NM_000051.3:c.6899G>C%3B_p.Trp2300Ser_-->_laut_ATM-VCEP-specs_ist_das_keine_(wahrscheinlich)_pathogene_Variante_(ClinVar_ID:_559541%3B_conflicting_interpretations_of_pathogenicity)_-->_0P_Fiévet,_2019_(PMID:_31050087):_Found_in_trans_with_NM_000051.3(ATM):c.7024G>T_p.(Gly2342Cys)%3B_consistens_phenotype_as_only_one_laboratory_finding_present_-->_laut_ATM-VCEP-specs_ist_das_keine_(wahrscheinlich)_pathogene_Variante_(ClinVar_ID:_1404265:_VUS)_-->_0P_Kim,_2023_(PMID:_37438524)%3B_Found_with_NM_000051.4(ATM):c.1110C>G%3B_phase_unknown_(putative_compound_heterozygous)%3B_phenotype_consistent_-->_1P_Invitae,_2022_(Accession:_SCV000837102.6):_A_similar_copy_number_variant_has_been_observed_in_individual(s)_with_clinical_features_of_ataxia-telangiectasia._In_at_least_one_individual_the_data_is_consistent_with_being_in_trans_from_a_pathogenic_variant._(phenotype_consistent_or_confident?)_-->_2P_/_4_P_+selected;date=2025-02-18_14:50:36;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32319100	44119	T	G	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PS3+strong_pathogenic+Table_9:_Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMID:32444794)_+selected$PM2+supporting_pathogenic+not_in_gnomAD_v2.1.1%3B_v3.1.2+selected$BP4+supporting_benign+BayesDel_no-AF_score_<%1Y_0.18_AND_SpliceAI_<%1Y0.1+selected;date=2024-12-10_10:18:13;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr11	108331560	44096	A	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|PM2+supporting_pathogenic+absent_from_gnmAD_v4.1.0%3B_gnomAD_v2.1.1:_AF_%1Y_0.000004025_(thus_≤0,001%)+selected$PP3+supporting_pathogenic+SpliceAI_shows_impact_on_splicing_(donor_loss_0.26)+selected;date=2025-01-14_10:51:10;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr22	28710060	44090	C	T	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+Tayoun/Walker+selected$PM5+supporting_pathogenic+ATM_VCEP:__PM5_PTCsup_in_addition_to_PVS1(RNA)_+selected;date=2025-02-11_10:41:38;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32346901	44035	G	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+Sahu_et_al.,_2023_(PMID:_37713444)_Saturation_genome_editing_and_drug_sensitivity_assay:_non_functional+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3+selected$PP4+medium_pathogenic+s._UCSC_ENIGMA_BRCA1/BRCA2_specs_1.1.0_Hub+selected$BP7+strong_benign+Casadei_(PMID:_31843900):_66%_WT_transcript_detected%3B_Skip_exons_12-13:_23%_%26_Skip_exon_13_10%_As_per_Table_9_of_CSpec:_>_30%_proportion_WT_or_(assumed)_functional_transcript_-->_BP7_RNA_STR_applicable+selected;date=2024-12-10_10:29:55;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32336753	43838	G	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PM2+supporting_pathogenic+variant_not_found_in_gnomAD_v2.1_(non-cancer,_exome_only_subset)_and_gnomAD_v3.1_(non-cancer)+selected$BP1+strong_benign+spliceAI:_BRCA2:_0.0,_outside_functional_domain+selected;date=2024-11-11_10:32:04;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr16	23603709	43837	C	<DUP>	.	.	START=23603709;END=23626437;SVTYPE=DUP;classification=3;comment=Duplication_exons_7-13_unknown_if_tandem_duplication_or_not._No_additional_evidence;criteria=ACMG_SVI_adaptation|3|;date=2024-11-11_10:54:36;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	35107448	43835	C	T	.	.	classification=3;comment=Frage,_ob_überhaupt_nehmbar%3B:_Davy_2017:_naturally_occuring_SpliceTranscript_lacking_Exon_3-5,_54,5%,_dann_wäre_die_Variante_nicht_schädlich;criteria=ACMG_SVI_adaptation|3|PVS1+medium_pathogenic+Variantin__invariant_splice_sites+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-11-11_15:13:33;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43063370	40799	A	AC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43099724	40798	TAAGGAATCCAGCAA	T	.	.	classification=1;source=heredicare
chr16	23638057	40795	A	ACGATTCACTTACCTGAAGGCGGGCTAGTGTCTTGC	.	.	classification=3;date=2017-05-11_00:00:00;source=heredicare
chr17	43104066	40789	AAAAG	A	.	.	classification=1;source=heredicare
chr17	43099835	40786	T	TCA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43104057	40782	CAAAAAAAAAAAAGA	C	.	.	classification=1;source=heredicare
chr17	43104070	40775	GAAAAAAAAAAGAAA	G	.	.	classification=1;source=heredicare
chr17	43104071	40774	AAAAAAAAAAG	A	.	.	classification=1;source=heredicare
chr17	43047723	40763	A	G	.	.	classification=1;source=heredicare
chr17	43047712	40755	C	T	.	.	classification=4;date=2021-03-09_00:00:00;source=heredicare
chr17	43092478	40753	T	TTCTCA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43049088	40750	T	A	.	.	classification=1;source=heredicare
chr13	32379770	40747	CCATCATCAGATT	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7674889	40743	A	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr16	23614002	40734	A	ACCATTTCAGAATAGGCTTTGTGACAGACTGAAGCTTGGTAAGAATCATCAATGTGCATCTTTTTCAGGAGTTGACCAGTTTTTAAATT	.	.	classification=4;date=2017-06-29_00:00:00;source=heredicare
chr17	7675193	40713	G	T	.	.	classification=2;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|2|PM2+supporting_pathogenic+not_in_gnomAD_v2/3/4+selected$BP4+supporting_benign+BayesDEL:_0.155978_spliceAI:_0+selected$BS3+supporting_benign+Kato_partially_functional,_Giacomelli_notDNE_notLOF,_Recombination_Assay_(Prof._Wiesmüller,_Ulm)_full_function+selected;date=2024-11-11_14:54:43;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	43051118	40694	C	G	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PVS1+very_strong_pathogenic+ENIGMA/ClinGen_Table_4:_PVS1(RNA)+selected$PS3+strong_pathogenic+Findlay_et_al._2018:_function.score_-2,73489350394579_->_LOF+selected;date=2024-11-12_12:06:22;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr2	214728807	40679	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+As_per_PVS1_decision_tree_von_Tayoun_(2018):_Nonsense_or_Frameshift_-->_Not_predicted_to_undergo_NMD_-->_Truncated/altered_region_is_critical_to_protein_function_-->_PVS1_Strong+selected$PS3+medium_pathogenic+Adamovich_et_al._PMID:_30925164_V767fs_LOF_in_HDR-,_Cisplatin-_and_IR-Assay+selected$PM2+supporting_pathogenic+very_rare_in_gnomAD_V2,3,4+selected;date=2025-02-13_14:53:56;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28694027	40616	C	A	.	.	classification=4;comment=Three_variants_reported_of_uncertain_significance_(VUS)_in_ClinVar_(c.846%2B5G>A,_c.1375G>A,_and_c.1461%2B5G>T)_are_reclassified_as_LP/P_in_our_study._In_all_three_variants,_the_mgCHEK2_read-out_is_clear-cut_(PVS1_O)._This,_in_combination_with_the_rarity_code_PM2_supporting,_allows_a_LP/P_classification._ClinVar_submitters_acknowledge_splicing_predictions_for_all_three_variants,_but_the_lack_of_experimental_splicing_data_(previous_to_the_present_study)_prevented_LP/P_classification.;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+PMID:_37725924_+selected$PM2+supporting_pathogenic+rare_variant_not_in_.gnomAD_V3_only_1x_in_gnomAD_V4+selected;date=2024-11-11_16:17:08;scheme=ACMG_SVI_adaptation;source=heredivar
chr19	10961029	40525	CGGGCGCGCGCGCGAGGCTTCCCCTCGTTTGGCGGCGGCGGCGGCTTCTTTGTTTCGTGAAGAGAAGCGAGACGCCCATTCTGCCCCCGGCCCCGCGCGGAGGGGCGGGGGAGGCGCCGGGAAGTCGACGGCGCCGGCGGCTCCTG	C	.	.	START=10961030;END=10961174;SVTYPE=DEL;IMPRECISE;classification=3%2B;comment=Deletion_exon_1,_Patientin_with_SCCOHT_and_no_SMARCA4_expression_in_tumor_tissue;criteria=ACMG_SVI_adaptation|3|;date=2024-10-11_13:34:25;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43092775	40452	GGCT	GTG	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35100447	40446	AGCTTATTTCCACCCAGTAACTCAGAGACAGAGCTAAGGAAGAGTGGGCCCCCATCTAACAAATGGAAAGGCAGAGACAAAAGAAAAAAAAGGCAGCAGCAGCAAAGGCAAGTTAGAGGCTTTCCCGGCTTGGCCACTGCGCTAGGAGGGAGCACAGGACACAATGGTGATGCACAGGATTATCCATCCAGTCGCCAGCATGCCTCATCAGAGATGCTCCCAGCCAGGGTGAACTTGGTTTCCACCAGAAACATACACGTTAGAAATAAGGGAAGGAAACGTGGCACCAGTATGAATTTCTGGGTCCTCGCAATGCAGCATCCTCTTTCGCCTGTGGTTTATATGCTTACAGAGAGTGAGGCCAAGGAACCCAAGATGTCTCTTCTGGCCAGCCTGAGAACGTCTGTAGTCACCAGTGCCAGGTGGCAGTAAACAGCAGGCGTTACTGGGAAGAAAAGTTGGGAGGGGTCCCCAATGCTTCCCTGTTTCCCAAACAACAGCACAGGTCATGTCTGATCACCCTGTAATGTGGCACTCTGCTCTGAGGTCCCCCAGGTCCCAATGTCTACCATCTCCTGGAAACCTGTTGGCTGGAAGAAGAAGTAAGGAGTCAGTGGAGTTAAGCAACCCAAGTGGGTAGCTTCTTTAGTTGCAAGGTTTCAGCCTCTAAAGAGTTCTTCTCGAAGACATCTGTGGGTATGGAAACCACCCTCCAGGGCCCAAGATTACTGGCATCTTCCTGGGGCTGGCTCACCTGTCGGG	AA	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+strong_pathogenic+deletion_likely_disrupts_C-terminus_of_the_ATPase_domain_(PMID:_14704354,_19327148,_21111057)_and_RAD51C_interaction_domain_(PMID:_10749867,_14704354,_19327148)_+selected$PS4+strong_pathogenic+Öfverholm_et_al._2023_(PMID:_37563628),_internal_data_enriched_in_cases_from_GC-HBOC,_6x_in_Mu_(2019)_Genet_Med_21:_1603_(PubMed:_30563988)_761_bp_incl._ex._9-10,_Ambry_60,000_clinical_samples+selected$PM2+supporting_pathogenic+not_in_gnomAD_CNVs+selected;date=2025-08-12_12:00:49;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	35119586	40335	GGCACA	GT	.	.	classification=4;date=2020-03-10_00:00:00;source=heredicare
chr17	43090923	40226	ACACACACACACGCTTTTTACC	AT	.	.	classification=5;source=heredicare
chr17	43090921	40197	GCACACACACACACGCTTTTTA	GT	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr13	32394801	40095	CAACCTCCAGTGGCG	CCT	.	.	classification=4;date=2016-06-22_00:00:00;source=heredicare
chr17	43045697	40015	ATCTGGGGTA	AACTGGGTT	.	.	classification=4;date=2021-06-08_00:00:00;source=heredicare
chr13	32339469	40012	TAAATA	TG	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43099774	39942	CCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTG	C	.	.	START=43099775;END=43099880;SVTYPE=DEL;IMPRECISE;classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+As_per_ENIGMA_PVS1_decision_tree_and_table_4+selected$PS4+supporting_pathogenic+Bislang_14X_in_Köln_gefunden_nicht_in_gnomAD_V4.1_CNV+unselected$PM5+supporting_pathogenic+as_per_Table_4_VCEP+selected;date=2025-12-09_12:31:05;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32363460	39935	T	C	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PS3+strong_pathogenic+Richardson_2021_damaging+selected$PM2+supporting_pathogenic+GnomAD_v2-3_neg+selected$BP4+supporting_benign+Variant_is_predicted_to_be_benign_by_BayesDel_(threshold:_0.18,_value:_-0.128745).+selected;date=2024-08-13_11:18:21;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr22	28697073	39580	CTGGGTGAAACCGTAAGCCGTGATACACACAAC	CG	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Zemankova_2024,_>90%_aberrant_transcript_leading_to_NMD/mRN_degradation_due_to_fs_%2B_pretranslational_stop._%1Y>_PVS1-strong_nach_Walker_et_al..,_2023+selected$PS4+medium_pathogenic+Zemankova_2024:_OR_6,7%3B_21/10,204_(0.21%)_female_BC_cases_(Table_1)_and_only_in_1/3250_(0.03%)_PMC_(OR_%1Y_6.7%3B_95%CI_1.08–276.88,_p_%1Y_0.04)._+selected;date=2025-02-21_12:57:13;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43045677	39569	GTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTG	G	.	.	START=43045678;END=43045802;SVTYPE=DEL;IMPRECISE;classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+As_per_ENIGMA_PVS1-decision_tree_and_table_4+selected$PM5+strong_pathogenic+siehe_Table_4,_clingen_BRCA1,_und_Appendix_D,_clingen_BRCA1:_PM5_(PTC)_code_can_only_be_applied_to_germline_variants_that_meet_PVS1_codes,_namely_nonsense_and_frame-shift_changes,_including_large_deletions_and_tandem_duplications+selected;date=2024-08-13_11:40:34;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	47783233	39542	TATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTCCGGCGCTGAGTGATGCCAACAAGGCCTCGGCCAGGGCCTCACGCGAAGGCGGCCGTGCCGCCGCTGCCCCCGGGGCCTCTCCTTCCCCAGGCGGGGATGCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCTTGGCGCGCTCCGCGTCACCGCCCAAGGCGAAGAACCTCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACCAG	T	.	.	START=47783234;END=47783493;SVTYPE=DEL;classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+PVS1_(single_exon_deletion)_see_new_ClinGen_guidelines+selected$PP4+supporting_pathogenic+IHC_shows_loss_of_MSH6_expression_in_Tumor+selected;date=2024-08-13_10:49:35;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43092242	37953	T	TTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCA	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PVS1+very_strong_pathogenic+table_4+selected$PM5+strong_pathogenic+Table_4,_PTC_in_Exon_11+selected;date=2024-12-10_11:02:09;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43090973	37832	A	ATAGCCCTGAG	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32344575	36769	A	T	.	.	classification=4M;comment=Variant_found_in_patients_with_FA_therefore_may_be_hypomorphic;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PVS1+very_strong_pathogenic+Table_4+selected$PM3+supporting_pathogenic+Ambry_Genetics:_This_variant_has_been_confirmed_to_be_in_trans_with_a_BRCA2_pathogenic_variant_in_an_individual_diagnosed_with_clinical_features_of_Fanconi_anemia_(external_communication).+selected;date=2024-10-08_11:39:34;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32356499	36283	G	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PP4+supporting_pathogenic+combined_LR_Score_(UCSC):__3.553_+selected$BP4+supporting_benign+inside_a_(potentially)_clinicallyimportant_functional_domain__BayesDEL:-0.338243_SpliceAI:_0.06_+selected$BS3+strong_benign+Huang_et_al.,_2025:_(Tab_S6B_und_S8):_B_strong,_ACMG:_LB__Sahu_et_al.,_2024_(Tab._S5,_S6):_LB_+selected;date=2025-11-17_19:50:24;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43094680	36160	T	TGTAATGA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43063209	35809	TC	T	.	.	classification=3-;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.2.0|3|PP3+supporting_pathogenic+SpliceAI_Acceptor_Gain_0.47+selected$BS1+strong_benign+gnomAD_v3.1.2_(non-cancer)_Grpmax_Filtering_AF_%1Y_0.0001123_%1Y_0.01123%,_thus_>_0.0001_(>_0.01%)+selected;date=2026-03-13_10:09:34;scheme=ClinGen_ENIGMA_BRCA1_v1.2.0;source=heredivar
chr11	108335961	35555	G	A	.	.	classification=4;comment=PVS1(RNA):_RNA_studies_have_demonstrated_that_this_alteration_results_in_abnormal_splicing_in_the_set_of_samples_tested_(Ambry_Genetics_internal_data/communication);criteria=ClinGen_ACMG_ATM_v1.3.0|4|PVS1+very_strong_pathogenic+PVS1(RNA):_RNA_studies_have_demonstrated_that_this_alteration_results_in_abnormal_splicing_in_the_set_of_samples_tested_(Ambry_internal_data):__Anfrage_an_Ambry_Genetics_ergab_folgende_Antwort:_Ambry_RNA_studies_detected_substantial_aberrant_splicing_resulting_in_exon_skipping_(r.8152_8268del)_associated_with_this_variant._This_in_frame_event_occurs_in_the_kinase_(FATKIN)_domain_and_is_considered_critical_for_protein_function._Our_assay_was_performed_on_blood_samples_and_we_do_not_use_NMD_inhibitors._NMD_is_known_to_be_relatively_inactive_in_blood_cells,_and_we_are_routinely_able_to_detect_transcripts_that_contain_premature_stop_codons_for_most_genes._We_cannot_release_details_regarding_quantitation_because_our_assay_isn’t_validated_as_a_quantitative_assay.__-->_laut_ATM_PVS1/PVS1(RNA)_Guide_-->_PVS1_VST+selected$PM2+supporting_pathogenic+absent_from_gnomAD_+selected;date=2024-10-11_13:23:04;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	7673759	35541	C	G	.	.	classification=2;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|2|BP4+supporting_benign+AlignGVGD_class:__C0%3B_BayesDel_(no_AF):__-0.117111+selected$BS3+strong_benign+Kato_et_al:_Transactivation_assays_in_yeast_show_retained_function_(76-140%_activity)_or_super-transactivation_function_Giacomelli_et_al:_No_evidence_of_DNE_%2B_no_evidence_of_LOF_+selected;date=2024-09-09_16:14:27;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	35119613	35540	T	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Start_loss_variant_alternative_start_codon_at_position_16_but_many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PS1+medium_pathogenic+c.1A>T_(patient_with_BC_and_OC):_pathogenic_(PMID:_24130102),_likely_pathogenic_(PMID:_33047316)+selected$PM2+supporting_pathogenic+1x_in_gnomAD_V2_(non_cancer_oder_all)%3B_2x_in_gnomAD_V3_(non_cancer_oder_all)+selected;date=2026-02-21_14:04:47;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	58734124	35522	G	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PP3+medium_pathogenic+REVEL_%1Y_0.898_(thus_[0.773,_0.932),_as_per_Pejaver_et_al._(2022,_PMID:_36413997))+selected;date=2024-12-10_11:08:06;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43092584	35520	G	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$BP1+strong_benign+missense_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)__+selected;date=2024-12-10_11:03:41;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43047685	35518	C	T	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|PM2+supporting_pathogenic+not_in_gomAD+selected$BP4+supporting_benign+Missense_o_inside_a_(potentially)_clinicallyimportant_functional_domain,_and_no_predicted_impact_via_protein_change_or_splicing(BayesDel_no-AF_score_≤_0.15_AND_SpliceAI_≤0.1).+selected$BS3+strong_benign+Findlay2018:_functional+selected;date=2024-07-08_15:53:09;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32332271	35490	G	A	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PVS1+very_strong_pathogenic+PTC_NMD_predicted+selected$PM2+supporting_pathogenic+not_in_GnomAD+selected;date=2024-07-08_15:37:22;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr2	214745160	35476	C	T	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Null_variant_(nonsense,_frameshift,_canonical_%2B/-1_or_2_splice_sites,_initiation__codon,_single_or_multi-exon_deletion)_in_a_gene_where_loss_of_function_(LOF)__is_a_known_mechanism_of_disease_+selected$PS4+supporting_pathogenic+Li_et_al._2019_(PMID:_29752822)_1_Patient_ClinVar_1_Patient_affected_(für_2_weitere_unknown)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/v3/v4+selected;date=2024-06-10_16:34:27;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108253920	35472	T	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|3|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP4+supporting_benign+Revel%1Y0.058+selected;date=2024-06-10_16:41:07;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr10	87864537	35464	T	C	.	.	classification=4;comment=;criteria=ClinGen_ACMG_PTEN_v3.1.0|4|PS3+medium_pathogenic+_Mighell_et_al._2018_(PMID:_29706350),_(Apply_PS3_moderate_for_all_variants_with_scores_<_-1.11.)_Score:-4,19446796_+selected$PM2+supporting_pathogenic+absent_from_gnomAD+selected$PM5+medium_pathogenic+https://www.ncbi.nlm.nih.gov/clinvar/variation/234830/_(expert_panel)+selected$PP2+supporting_pathogenic+Missense_variant_in_a_gene_that_has_a_low_rate_of_benign_missense_variation_and_where_missense_variants_are_a_common_mechanism_of_disease.+selected$PP3+supporting_pathogenic+Revel_0.968+selected;date=2024-06-11_13:53:24;scheme=ClinGen_ACMG_PTEN_v3.1.0;source=heredivar
chr22	28695783	35453	G	C	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|PM2+supporting_pathogenic+gnomAD_v4.0:_9x_het,_MAF_0,0006%+selected$BP4+supporting_benign+REVEL:_0.235+selected$BS3+supporting_benign+Stolarova_(2023,_PMID:_37449874):_benign_via_CHK2_%26_KAP1_assay_+selected;date=2025-03-11_16:13:17;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108365493	35447	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-05-14_11:02:51;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	64804813	35445	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS4+medium_pathogenic+This_alteration_has_been_reported_in_multiple_families_with_clinical_features_of_MEN1_(Pardi_E_et_al._PLoS_ONE_2017_Oct%3B12(10):e0186485%3B_Ambry_internal_data)._+selected$PM2+supporting_pathogenic+_1x_in_gnomAD_v3.1.2_(non-cancer)+selected$PP3+strong_pathogenic+REVEL-Score_0.961_(pathogenic_strong),_Varsome:_META-Score_(20)_pathogenic_+selected;date=2024-05-14_10:33:45;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7674950	35439	A	C	.	.	classification=4;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|4|PS3+strong_pathogenic+Giacomelli_2018:_DNE_and_LOF,_Kato_2003:_non_funct__ClinGen-TP3-PS3-str:_transactivation_assays_in_yeast_(IARC_classification_based_on_data_from_Kato_et_al,_2003)_that_demonstrate_a_low_functioning_allele_(<%1Y_20%_activity)_AND:_Evidence_of_dominant_negative_effect_(DNE)_%2B_evidence_of_LOF_from_Giacomelli,_et_al_data_+selected$PM1+medium_pathogenic+This_rule_can_be_applied_to_variants_in_hot_spots_(codons_175,_245,_248,_249,_273,_282),_but_not_to_variants_within_functional_domains._Use_transcript_NM_000546.4._Also_use_rule_for_variants_with_≥10_somatic_observations_cancerhotspots.org_(v2)_L194:_49x_in_cancerhotspots+selected$PM2+supporting_pathogenic+1X_in_gnomAD+selected$PP3+medium_pathogenic+BayesDel_(no_AF):_0.582962_AlignGVGD:__C65+selected;date=2024-05-14_11:18:09;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr2	47463052	35438	G	T	.	.	classification=3-;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0|3|PM2+supporting_pathogenic+not_in_gnomAD_v.4.1+selected$BS3+strong_benign+Jia_et_al.,_2021%3B___Functional_(No_LOF)+selected;date=2025-09-09_10:56:41;scheme=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0;source=heredivar
chr11	108244831	35029	C	G	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$BP4+supporting_benign+Revel:_0.029+selected;date=2025-05-13_10:32:23;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr19	1221295	35005	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL_%1Y_0,156+selected$BS1+supporting_benign+Allele_frequency_is_greater_than_expected_for_disorder:_(StatPearls_1_in_25,000_to_300,000_%1Y_0,0003%%3B_MedSpace:_1_case_per_60,000_people_%26_1_case_per_300,000)_gnomAD_4.1.0_Grpmax_Filtering_AF_%1Y_0.00001031_-->_0,001%+selected;date=2024-11-11_16:12:16;scheme=ACMG_SVI_adaptation;source=heredivar
chr7	5995534	34483	C	A	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+RNA_studies:_skipping_of_exon_8,__NMD_(r.804_903del%3B_p.Tyr268*)+selected$PM2+supporting_pathogenic+gAD_v4:_1/152058_alleles+selected$PM3+medium_pathogenic+Lavoine_2015:_1_patient_with_recessive_constitutional_mismatch_repair_deficiency_+selected$PP4+medium_pathogenic+MSI_high_and/or_abnormal_PMS2_protein_expression_on_immunohistochemistry+selected;date=2024-04-09_10:12:42;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43049162	34482	C	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|3|PM2+supporting_pathogenic+Absent_from_controls_+selected$PP3+supporting_pathogenic+for_missense_or_in-frame_insertion,_deletion_or_delins_variants_inside_a_(potentially)_clinically_important_functional_domain_and_predicted_impact_via_proteinchange_(BayesDel_no-AF_score_≥0.28)._->_BayseDel_no_AF:0.3921+selected$BP5+medium_benign+LR:_0,206541838_(Parson_et_al,_2019)_+selected;date=2024-04-09_10:52:07;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr3	37048527	34481	T	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+medium_pathogenic+Kosinski_2010:_statistically_significant_reduction_of_relative_MLH1expression_(25-75%)_but_MMR_activity_>60%_compared_to_wild_type_Houlleberghs_2020:_methylation-damage-induced_mutagenesis_events_and_slippage_rate/MMR_capacity_at_similar_rates_as_the_MMR-deficient_S44F_pathogenic_control+selected$PM2+supporting_pathogenic+Absent_from_controls+selected$PP3+supporting_pathogenic+REVEL:_O.975+selected;date=2024-04-09_10:08:00;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32363211	34472	C	G	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PM2+supporting_pathogenic+Absent_from_controls+selected$PP4+very_strong_pathogenic+Caputo_SM_et_al.,_2021,_Combined_LR:_7,283.30_+selected$BP4+supporting_benign+BayesDel_no-AF_score:_0.1593+selected;date=2024-04-09_10:34:02;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr11	108249024	34471	GGAA	G	.	.	classification=3%2B;comment=Variant_in_NLS_(AS_385-388)%3B_Lys387Gln_homozygot_in_AT_patient__(Amirifar_2021)%3B;criteria=ClinGen_ACMG_ATM_v1.1.0|3|PM2+supporting_pathogenic+absent_from_gnomAD+selected;date=2024-05-14_10:36:45;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr17	58692646	34470	G	C	.	.	classification=3-;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+absent_from_gnomAD+selected$BS3+strong_benign+alternative_start_codon_at_M10_variants_in_the_first_methionine_are_homologous_recombination_proficient_https://www.sciencedirect.com/science/article/pii/S156878642400020X?via%3Dihub+selected;date=2024-05-03_13:22:32;scheme=ACMG_SVI_adaptation;source=heredivar
chr7	5986759	34469	C	<DUP>	.	.	START=5986759;END=6009019;SVTYPE=DUP;classification=3;comment=Duplikation_Exon_1-11_unklar_ob_in_Tandem,_Class_3;criteria=ACMG_SVI_adaptation|3|;date=2024-05-03_10:18:12;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43115769	34467	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|PM2+supporting_pathogenic+absent_from_gnomAD+selected$BP4+supporting_benign+BayesDel_no-AF_score_≤_0.15_AND_SpliceAI_≤0.1+selected$BS3+strong_benign+Findlay_et_al._2018,_functional_(BS3_met)+selected;date=2024-05-03_08:03:18;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr22	28695786	32954	C	G	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+strong_pathogenic+Stolarova_et_al_2023_(CHK2-_und_KAP1-Phosphorylation)_both_assays_damaging%3B_Kleiblova_et_al_2019:_deleterious+selected;date=2026-03-10_11:26:46;scheme=ACMG_SVI_adaptation;source=heredivar
chr16	23603511	32918	TGA	T	.	.	classification=4;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|4|PVS1+strong_pathogenic+PVS1_PALB2_descision_tree:_frameshift_-_altered_region_is_critical_for_protein_function_(frameshift_upstream_p.His1184)+selected$PM2+supporting_pathogenic+gnomAD_v4_<%1Y_1/300,000_alleles+selected$PP1+supporting_pathogenic+Hartley_2014,_segregation_of_this_alteration_with_disease_in_4_out_of_5_individuals_from_one_family+selected;date=2025-04-02_16:24:45;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr22	28712007	32877	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+medium_pathogenic+Stolarova_2023:_damaging_in_CHK2%26KAP1_assay+selected$PM2+supporting_pathogenic+absent_from_gnomAD_2/3/4+selected$PP3+medium_pathogenic+REVEL_%1Y_0.859_(thus_[0.773,_0.932)_as_per_Pejaver_(2022,_PMID:_36413997))+selected;date=2025-07-09_14:28:48;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32394687	31044	A	G	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PVS1+medium_pathogenic+RNA-Analysis_(GC-HBOC):_partial_skipping_of_exon_25_(r.9257_9283del),_p.(Gly3086_Ser3094del),_in_frame_and_skipping_of_exon_25_with_partial_retention_of_intron_24_(r.9257_9501delins91),_frameshift._Not_quantified._+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2_/_3+selected;date=2025-02-18_12:32:32;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	35101205	30780	CG	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+No_NMD_expected_but_last_29_amino_acids_(ATPase_domain)_affected_+selected$PS4+supporting_pathogenic+In_ClinVar_and_HGMD_reported_with_same_phenotype+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-02-15_10:36:31;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108293311	30779	A	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|3|PVS1+strong_pathogenic+VCEP_ATM_1.1_PVS1_str_-_list_B+selected$PM2+supporting_pathogenic+not_found_in_gnomAD+selected;date=2024-02-15_10:13:07;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr22	28710006	30778	A	G	.	.	classification=2;comment=Silent_mutation_with_negative_splice_prediction;criteria=ACMG_SVI_adaptation|2|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP4+supporting_benign+spliceAI:_CHEK2:_0.0_REVEL:_0.061+selected$BP7+supporting_benign+A_synonymous_(silent)_variant_for_which_splicing_prediction_algorithms__predict_no_impact_to_the_splice_consensus_sequence_nor_the_creation_of_a__new_splice_site_AND_the_nucleotide_is_not_highly_conserved.+selected;date=2024-05-28_17:04:07;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28734402	30777	CCAAGATTGGCAAATCCATCCTGAAGGGCCCATAATCGAGCCCAGGGGGCAGGGGTAGGCTCCTCAGGTTCTTGGTCCTCAGGTTCTTGGTCCTCAGGAATAGAATAGAGTTCCTGAGTGGACACTGTCTCTAAGGAGCTCAGTGTCCCAGAGCTGGAGTGAGAGGACTGGCTGGAGTTTGGCATCGTGCTGGTAGAGGAGCTGGATATGCCCTGGGACTGTGAGGAGGAGCCTTGGGACTGGGTAACGCTGCCATGGGGCTGTGAACAGGCACTGCTGCCATGAGACTGCTGAGCCTCAACATCCGACTCCCGAGACATCACGAC	C	.	.	START=28734403;END=28734727;SVTYPE=DEL;IMPRECISE;classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+Deletion_of_coding_exon_2_(first_coding_exon)_start_loss_and_at_least_100_aminio_acids_missing+selected$PM1+supporting_pathogenic+FHA_domain_affected+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-02-15_15:29:49;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	61780999	30776	TGCAAATCTA	T	.	.	classification=4;comment=Vorbehaltlich_der_Ergebnisse_der_RNA-Analyse_in_München_bzw._im_Rahmen_von_HerediVar;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+Exon_skipping_or_use_of_a_cryptic_splice_site_disrupts_reading_frame_and_is_predicted_to_undergo_NMD+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-02-15_19:22:15;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32338349	30775	C	T	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP1+strong_benign+missense__outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1).+selected;date=2024-02-15_10:18:15;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr11	108316060	30741	T	G	.	.	classification=4;comment=;criteria=ACMG_standard|4|PM2+supporting_pathogenic+Absent_from_controls_+selected$PM3+strong_pathogenic+found_in_trans_in_AT-patients:_Maciejczyk_et_al_und_Podralska_et_al.+selected$PP3+supporting_pathogenic+REVEL:_0,83+selected;date=2024-01-09_11:26:03;scheme=ACMG_standard;source=heredivar
chr16	23622965	30740	T	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_PALB2_v1.0.0|3|PM2+supporting_pathogenic+absent_in_gnomAD+selected$PP3+supporting_pathogenic+__spliceAI:_PALB2:_0.48+selected;date=2024-01-09_11:54:31;scheme=ClinGen_ACMG_PALB2_v1.0.0;source=heredivar
chr17	7674225	30738	C	T	.	.	classification=4;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|4|PS3+strong_pathogenic+Kato_et_al.__2003,_LOF_(PMID:_12826609)%3B_Dearth_et_al.,_2007_DNE_(PMID:_16861262)+selected$PM1+medium_pathogenic+≥10_somatic_observations_cancerhotspots.org_(v2)+selected$PM2+supporting_pathogenic+absent_in_gnomAD_non-cancer_v2/3+selected;date=2024-01-18_14:24:01;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr22	28695127	30737	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+MAF:_8.609e-7%3B_1x_in_gAD_v4+selected$PP3+supporting_pathogenic+spliceAI:_0.32_(donor_loss)%3B_REVEL:_0.548+selected;date=2025-02-13_15:10:01;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32341194	30733	T	C	.	.	classification=2;comment=coldspot_variant;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP1+strong_benign+Apply_BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_ordelins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_nosplicing_predicted_(SpliceAI_≤0.1).+selected;date=2023-12-19_11:58:44;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	43047657	30731	T	C	.	.	classification=4;comment=conflicting_functional_and_genetic_data;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|4|PVS1+medium_pathogenic+RNA_studies_have_demonstrated__abnormal_splicing_in_the_set_of_samples_tested_and_result_in_allele-specific_skipping_of_coding_exon_22_which_is_predicted_to_result_in_a_frameshift_with_loss_of_a_critical_portion_of_the_BRCT_domain_of_BRCA1_(Ambry_internal_data%3B_Rouleau_E_et_al._Cancer_Genet_Cytogenet._2010_Oct%3B_202(2):144-6%3B_Houdayer_C_et_al._Hum_Mutat._2012_Aug%3B33(8):1228-38).+selected$PS3+strong_pathogenic+Findlay_et_al._LOF_Table9_BRCA12VCEP_specs+selected$PM2+supporting_pathogenic+absent_from_controls+selected$BP5+supporting_benign+LR:_0.34_(Parsons_et_al,_2019)+selected;date=2023-12-19_16:34:23;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr17	7676387	30730	CGTT	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|3|PS4+supporting_pathogenic+This_variant_has_been_reported_in_2_probands_meeting_Chompret_criteria_(PS4_Supporting%3B_ClinGen_TP53_Variant_Curation_Expert_Panel)+selected$BS2+supporting_benign+This_variant_has_been_observed_in_2-7_60%2B_year_old_females_without_a_cancer_diagnosis_(BS2%3B_ClinGen_TP53_Variant_Curation_Expert_Panel).+selected;date=2023-12-19_12:15:41;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	43051063	30728	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32339354	30727	T	A	.	.	classification=2;comment=Coldspot_variant,_BP1_str;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+missense_variant_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected;date=2023-11-14_11:09:21;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	7670669	30725	G	C	.	.	classification=2;comment=BS3,_BP4,_PM2_sup;criteria=ClinGen_ACMG_TP53_v1.4.0|2|PM2+supporting_pathogenic+PM2_sup,_not_in_gnomAD+selected$BP4+supporting_benign+_aGVGD_(zebrafish%3B_Class_C0_or_C15_is_considered_evidence_of_non-pathogenicity)_and_BayesDel_<0.16,_SpliceAI_0.0+selected$BS3+strong_benign+Kato_>100%+selected;date=2023-11-14_11:52:47;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	43057093	30724	G	C	.	.	classification=4;comment=PS3,_PM2_sup,_PP3;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|4|PS3+strong_pathogenic+PS3_strong:Table_9:_Reported_by_two_calibrated_studies_to_affect_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30209399,_Findlay,_30765603,_Fernandes)+selected$PM2+supporting_pathogenic+Absent_from_gnomAD_PM2_supp+selected$PP3+supporting_pathogenic+BayesDel_noAF_score_0.3731+selected;date=2023-11-14_12:50:58;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr13	32340043	30714	A	G	.	.	classification=2;date=2018-07-10_00:00:00;source=heredicare
chr13	32329454	30705	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43115721	30686	C	T	.	.	classification=4;date=2020-07-14_00:00:00;source=heredicare
chr17	58709991	30683	G	GT	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+As_per_Tayoun_(2018,_PMID:_30192042):_Exon_skipping_or_use_of_a_cryptic_splice_site_preserves_reading_frame_-->Truncated_/_altered_region_is_critical_to_protein_function_%26_Variant_removes_>10%_of_protein_-->_STR+selected$PS1+supporting_pathogenic+Ambry_Genetics_9/25:_RNA_studies_have_demonstrated_that_837%2B2T>C_results_in_abnormal_splicing_(Sanoguera-Miralles_L_et_al._Cancers_(Basel),_2020_Dec%3B12,_Ambry_internal_data)._The_resulting_transcript_is_predicted_to_be_in-frame_and_is_not_expected_to_trigger_nonsense-mediated_mRNAdecay._However,_the_region_predicted_to_be_impacted_is_critical_for_protein_function_(Ambry_internal_data)._This_nucleotide_position_is_highly_conserved_in_available_vertebrate_species._This_variant_is_considered_to_be_rare_based_on_population_cohorts_in_the_Genome_Aggregation_Database_(gnomAD)._Based_on_the_majority_of_available_evidence_to_date,_this_variant_is_likely_to_be_pathogenic+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected;date=2026-03-10_12:17:16;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43091714	30682	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32371024	30671	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108256340	30665	G	A	.	.	classification=5;date=2018-01-11_00:00:00;source=heredicare
chr13	32337800	30661	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr3	37012102	30660	A	G	.	.	classification=5;date=2021-09-14_00:00:00;source=heredicare
chr16	68808577	30651	G	C	.	.	classification=1;date=2019-08-27_00:00:00;source=heredicare
chr11	108252824	30647	C	T	.	.	classification=2;date=2017-10-19_00:00:00;source=heredicare
chr17	43092636	30634	G	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7676148	30627	G	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	43057129	30623	A	T	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	7676548	30596	T	C	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32357808	30572	T	C	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PS3+strong_pathogenic+Two_saturation_genome_editing-based_studies,_including_a_haploid_cellsurvival_assay_and_a_humanized_mouse_embryonic_stem_cell_line_assay_of_drug_response_and_survival,_demonstrate_that_this_nucleotide_substitution_may_be_non-functional_(Huang_H_et_al._Nature._2025_Feb%3B638(8050):528-537%3B_Sahu_S_et_al._Nature._2025_Feb%3B638(8050):538-545).+selected;date=2025-07-08_11:11:58;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr2	214769280	30555	T	C	.	.	classification=2;date=2020-11-10_00:00:00;source=heredicare
chr13	32363196	30549	A	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43094454	30548	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr3	37020342	30518	A	T	.	.	classification=3;date=2016-08-11_00:00:00;source=heredicare
chr11	108315904	30513	A	G	.	.	classification=1;date=2021-03-09_00:00:00;source=heredicare
chr2	214728719	30504	A	G	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP1+supporting_benign+gnomAD_v4.1.0_Z_%1Y_-0.17+selected$BP4+supporting_benign+BayesDel_noAF_benign:_-0.2087_SpliceAI:_no_effect_predicted+selected;date=2024-09-09_15:10:36;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32398437	30503	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43045735	30468	G	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43045664	30458	G	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32356536	30453	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	58709877	30450	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Olvera-León_et_al.,_2024:_Saturation_genome_editing%3B_RAD51C_Walker_B_motif_“LVIVD.”_The_highly_conserved_D242_residue,_which_interacts_with_ATP-Mg2%2B,_is_intolerant_to_all_substitutions._Hu_et_al.,_2023:_deleterious_variants_located_in_the_Walker_B_motif_at_residues_237_and_242,_which_is_also_predicted_to_contribute_to_ATP_binding_/__deleterious_in_the_HDR_assay_and_had_increased_sensitivity_to_cisplatin_and_olaparib,_a_PARP_inhibitor+selected$PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v2%2Bv3)_/_extremely_rare_in_gnomAD_v4:_1/1175334_alleles+selected$PP3+medium_pathogenic+REVEL_%1Y_0.808_(as_per_Pejaver_(2022,_PMID:_36413997))+selected;date=2025-08-12_11:02:59;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43057144	30449	A	T	.	.	classification=2;date=2023-02-14_00:00:00;source=heredicare
chr13	32338409	30442	G	T	.	.	classification=2;date=2015-05-08_00:00:00;source=heredicare
chr22	28699866	30418	T	C	.	.	classification=3;date=2021-03-09_00:00:00;source=heredicare
chr17	43092647	30412	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32362511	30411	T	C	.	.	classification=1;source=heredicare
chr17	7670669	30399	G	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	43071239	30386	C	T	.	.	classification=5;source=heredicare
chr11	108345765	30384	A	G	.	.	classification=3;date=2023-04-25_00:00:00;source=heredicare
chr13	32356551	30371	G	A	.	.	classification=3;date=2016-03-10_00:00:00;source=heredicare
chr17	43076611	30351	A	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|BP1+strong_benign+_SpliceAI%1Y0,_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_<%1Y0.1)+selected$BP5+medium_benign+Combined_LR_Score_0,21996_PMID_31853058+selected;date=2025-11-18_10:59:13;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43091495	30350	CT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338445	30346	A	C	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr3	37004470	30329	T	A	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr13	32325251	30323	A	G	.	.	classification=1;source=heredicare
chr17	7673609	30300	C	T	.	.	classification=4;date=2018-04-17_00:00:00;source=heredicare
chr17	58696716	30270	A	G	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PP3+supporting_pathogenic+REVEL_0.686+selected$BS3+supporting_benign+Functional_studies_were_inconclusive_regarding_the_effect_of_this_variant_on_RAD51C_protein_function_(PMIDs:_22451500_(2012),_25292178_(2015),_36099300_(2022),_35039523_(2022)_-_ABER:_37253112_(2023)_HRD:_Neutral_-_BS3_mod+selected;date=2024-07-09_12:04:00;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	214797064	30261	C	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+gnomAD_V.4.0_found_in_2_individuals_of_550000,_not_in_gnomAD_V3.1.2_nonCancer._Found_9_times_in_(~80K)_GC-HBOC_cases_+selected$PM5+medium_pathogenic+Lee_et_al._p.C71Y:_only_14%_HDR_function+selected$PP3+medium_pathogenic+REVEL_0.890+selected;date=2024-02-15_09:22:00;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	61847251	30250	G	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43045685	30241	T	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr2	47806364	30227	T	C	.	.	classification=2;date=2021-01-12_00:00:00;source=heredicare
chr17	43092837	30220	TTTTGGAC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32379755	30182	CTGAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338162	30173	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32394928	30152	GT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092476	30142	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1).+selected;date=2024-07-08_15:57:15;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43092133	30139	A	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32398667	30132	G	A	.	.	classification=1;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|1|BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain,_SpliceAI:_0+selected$BS3+strong_benign+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_benign_control_variants_(PMID:32444794)+selected;date=2025-05-13_11:39:30;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32338616	30109	TTTGAGAC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr7	5997321	30097	C	T	.	.	classification=4;date=2022-02-08_00:00:00;source=heredicare
chr13	32379464	30093	AC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32346896	30086	G	C	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+Reported_by_one_calibrated_study_incorporating_mRNA_splicing_effect_to_exhibit_function_similar_to_pathogenic_control_variants_(PMID:33293522)+selected$PM2+supporting_pathogenic+not_in_gnomAD_V3.1.2_non_cancer_and_not_in_gnomAD_V4.1.0_NFEs+selected$PM3+strong_pathogenic+Myers_(2011,_PMID:_21548014):_together_with_c.2899_2900del_(p.Leu967Argfs*14)%3B_phase_unknown_-->_1_P__Meng_(2017,_PMID:__28973083):_together_with_c.4965C>G_(p.Y1655*)%3B_comp._het._-->_2_P_Scott_(2022,_PMID:_33461977):_together_with_c.4965C>G_(p.Y1655*)%3B_comp._het._-->_2_P_+selected;date=2025-07-09_12:40:04;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	7674981	30079	A	C	.	.	classification=3;date=2021-06-08_00:00:00;source=heredicare
chr17	43070951	30068	A	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	7676120	30066	C	T	.	.	classification=2;date=2017-10-19_00:00:00;source=heredicare
chr13	32363172	30064	C	G	.	.	classification=3;date=2021-06-08_00:00:00;source=heredicare
chr11	108335080	30057	G	A	.	.	classification=5;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|5|PS3+medium_pathogenic+Andreassen_(2025):_damaging_Barone_(2009%3B_PMID:_19431188)_Reduced_kinase_activity+selected$PM2+supporting_pathogenic+gnomADv4:_MAF:_0.0008674%+selected$PM3+very_strong_pathogenic+Found_in_compound_het_stat_in_multiple_individuals_with_AT_and_at_least_2_in_trans,_PMID_16941484,_17124347,_17910737,_19431188,_21665257,_21792198,_22071889,_23632773,_25122203_+selected;date=2026-01-13_10:53:18;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr17	43097250	30030	T	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43093997	30004	G	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43092234	30002	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32394734	29980	T	G	.	.	classification=4;date=2022-05-17_00:00:00;source=heredicare
chr13	32336789	29977	AATATTCCC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28725365	29969	A	G	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Stolarova_PMID:_37449874,_Boonen_PMID:_35643632,_Delimitsou_PMID:_30851065:_damaging_variant+selected$PM2+supporting_pathogenic+Frequency_≤.001%_in_gnomAD_v4_dataset_+selected$PP3+supporting_pathogenic+REVEL_%1Y_0.859+selected;date=2025-12-04_12:22:44;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7674246	29966	G	C	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32337443	29964	T	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43063927	29963	G	A	.	.	classification=4;date=2019-06-11_00:00:00;source=heredicare
chr13	32340027	29960	C	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43082402	29947	A	C	.	.	classification=4;date=2019-11-29_00:00:00;source=heredicare
chr13	32333367	29934	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr22	28694042	29923	G	A	.	.	classification=1;comment=;criteria=ACMG_SVI_adaptation|1|BS1+strong_benign+>0.05%_in_gnomAD4.1_(Grpmax:_0.08117%)__CHEK2:_CanVIG-UK_Gene-Specific_Guidance+selected$BS3+strong_benign+Stolarova_(2023,_PMID:_37449874):_benign_via_CHK2_%26_KAP1_assay%3B_Delimitsou_et_al.,_2019:_did_not_have_a_substantial_impact_on_protein_function+selected;date=2025-12-04_12:18:58;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32340813	29912	C	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32340251	29905	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr16	23630019	29900	G	A	.	.	classification=2;date=2020-06-16_00:00:00;source=heredicare
chr2	214767431	29899	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr19	1220598	29896	G	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|1|PP3+supporting_pathogenic+SpliceAI_0.67_Acceptor_gain+selected$BS1+strong_benign+Allele_frequency_is_greater_than_expected_for_disorder+selected$BS3+strong_benign+Functional_RNA_study_has_shown_that_the_variant_causes_insignificant_splicing_aberration_(PMID:_34439939)+selected;date=2024-12-10_11:31:53;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	47806278	29891	TGTC	T	.	.	classification=4;date=2016-09-08_00:00:00;source=heredicare
chr13	32336703	29878	T	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43070922	29836	A	G	.	.	classification=4;date=2017-02-09_00:00:00;source=heredicare
chr17	7673796	29820	C	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32339964	29798	TC	AG	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43124005	29788	G	C	.	.	classification=1;source=heredicare
chr17	61685911	29784	G	C	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+as_per_Pejaver_(2022,_PMID:_36413997):_REVEL_%1Y_0.194+selected$BS1+strong_benign+gnomAD_v4.1.0_Grpmax_Filtering_AF_%1Y_0.004057_(%1Y_0.4%)_276x_het_%26_1x_hom+selected;date=2025-02-18_14:26:35;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32339907	29757	T	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32398743	29746	C	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32338658	29745	AAT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338872	29723	TC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108335921	29706	C	T	.	.	classification=3;date=2022-10-25_00:00:00;source=heredicare
chr17	43093299	29669	A	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr2	47801143	29650	A	T	.	.	classification=2;date=2019-06-11_00:00:00;source=heredicare
chr17	43092521	29649	CAAAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32379820	29639	TTATCA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr7	6009018	29611	A	T	.	.	classification=4;date=2017-05-11_00:00:00;source=heredicare
chr13	32319134	29581	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr2	47806286	29562	A	G	.	.	classification=2;date=2020-03-10_00:00:00;source=heredicare
chr17	43093915	29556	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32332645	29536	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr7	6003965	29514	AACTT	A	.	.	classification=4;date=2018-01-11_00:00:00;source=heredicare
chr13	32379308	29510	T	G	.	.	classification=3;source=heredicare
chr13	32362591	29495	G	T	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PS3+strong_pathogenic+ClinGen_BRCA2_Table_9:_Richardson_2021_(PMID:33609447)_-_Damaging+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-02-15_10:21:35;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr13	32370951	29478	T	C	.	.	classification=2;date=2021-03-09_00:00:00;source=heredicare
chr22	28695789	29470	C	T	.	.	classification=4;comment=;criteria=ACMG_standard|4|PS3+strong_pathogenic+Deleterious_in_:_Stolarova_et_al_2023_(PMID:_37449874),_Kleiblova_et_al_2019_(PMID:_31050813),_Delimitsou_et_al_2019_(PMID:_30851065)+selected$PM2+supporting_pathogenic+popmax:_AFR_popmax_AF:2.41220e-05+selected$PP3+supporting_pathogenic+REVEL:_0.864,_BayesDEL:0.394329+selected;date=2023-12-19_15:21:11;scheme=ACMG_standard;source=heredivar
chr13	32332659	29468	A	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32394640	29459	T	C	.	.	classification=1;source=heredicare
chr17	58734188	29454	G	A	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr17	7675217	29434	T	C	.	.	classification=5;date=2022-10-25_00:00:00;source=heredicare
chr17	43093220	29393	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32332778	29371	AAAAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108330212	29343	A	C	.	.	classification=4;date=2017-06-29_00:00:00;source=heredicare
chr13	32340341	29333	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43124062	29327	T	G	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PS3+strong_pathogenic+Reported_by_two_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30209399,_32546644)+selected;date=2025-10-14_11:43:02;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr7	5977677	29302	G	T	.	.	classification=2;date=2018-01-11_00:00:00;source=heredicare
chr17	43076640	29290	CTACTT	C	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PVS1+strong_pathogenic+PVS1_STR_(RNA):_Leman_(2022,_PMID:_36273432):_Blood_RNA_analysis_-->_Assay_results_using_patient_mRNA_without_allele-specific_quantitation_-->_r.4358_4484del,_p.(Ala1453GlyfsTer10)_-->_PVS1_(downgrade_as_RNA_analysis)+selected;date=2025-11-18_10:54:17;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32341143	29227	T	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43045766	29226	C	CG	.	.	classification=4;date=2016-06-22_00:00:00;source=heredicare
chr17	43093759	29216	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32340945	29213	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32394708	29173	TTTGTCAGACGA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7673700	29154	C	T	.	.	classification=4;date=2018-05-08_00:00:00;source=heredicare
chr11	108289753	29153	T	G	.	.	classification=1;date=2019-11-12_00:00:00;source=heredicare
chr3	37028937	29148	G	A	.	.	classification=2;date=2019-11-29_00:00:00;source=heredicare
chr22	28711994	29140	A	G	.	.	classification=4;date=2023-04-25_00:00:00;source=heredicare
chr2	214767482	29127	A	G	.	.	classification=3;date=2022-01-18_00:00:00;source=heredicare
chr17	43063903	29113	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338633	29081	A	AT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32394707	29064	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32394820	29062	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32340586	29054	G	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32338581	28952	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094603	28948	GT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093525	28947	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43049195	28923	C	A	.	.	classification=5;source=heredicare
chr17	43063939	28907	ACAAACT	A	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|3|PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-01-09_12:22:01;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr13	32326569	28897	G	A	.	.	classification=2;date=2016-12-08_00:00:00;source=heredicare
chr17	43092844	28892	C	T	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|PM2+supporting_pathogenic+absent_from_controls+selected$BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain_%2B_SpliceAI_≤0.1+selected;date=2025-09-09_11:44:19;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43063917	28884	A	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108332892	28809	C	T	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|2|BP4+supporting_benign+REVEL_%1Y_0.142_(thus_≤0.249)+selected$BS3+medium_benign+Well-established_in_vitro_or_in_vivo_functional_studies_show_no_damaging_effect_on_protein_function_or_splicing._Hanenberg_et_al._PMID:_40105422+selected;date=2025-12-09_11:48:52;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr17	43092077	28808	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr22	28711986	28802	C	T	.	.	classification=3-;comment=BS3_sup_intermediat_in_Kleiblova_et_al.;criteria=ACMG_SVI_adaptation|3|BS3+supporting_benign+Stolarova_et_al._benign_+selected;date=2025-05-13_12:30:50;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43082508	28798	AAC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32376794	28790	G	C	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PVS1+very_strong_pathogenic+PVS1(RNA):_Monoallelic_expression_full_length_transcript_per_allele_specific_PCR_in_patient_LCLs_%2B_puromycin%3B_PMID:_21638052,_23451180+selected$PM2+supporting_pathogenic+abesent_from_gnomAD_v2/3/4+selected$BP5+supporting_benign+Combined_LR:_0.3_(PMID:_31131967,_31853058)+selected;date=2025-10-14_12:10:29;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr2	47414421	28759	A	G	.	.	classification=4;date=2021-03-09_00:00:00;source=heredicare
chr13	32332437	28750	T	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32398567	28743	C	G	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr13	32346897	28729	G	C	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|5|PVS1+very_strong_pathogenic+PVS1_(RNA)_(see_ENIGMA_Specifications_Table_4)+selected$PS1+supporting_pathogenic+PS1,_for_exonic_and_intronic_variants_with_same_predicted_impact_on_splicing,_as_a_previously_classified_(likely)_pathogenic_variant_see_ENIGMA_table_17+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-05-28_16:12:14;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr11	108249006	28726	A	G	.	.	classification=2;date=2023-05-09_00:00:00;source=heredicare
chr13	32339773	28716	A	G	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr11	108345896	28664	ACTT	A	.	.	classification=3;date=2017-03-16_00:00:00;source=heredicare
chr13	32355172	28660	A	G	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr13	32363445	28652	G	A	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PS3+strong_pathogenic+_Ikegami_2022,_Mesman_2019,..._(Table_9_ClinGen_ENIGMA_Guidelines)+selected$PP3+supporting_pathogenic+BayesDel_0.458+selected$PP4+very_strong_pathogenic+Easton_2007:_LLR_3,4_%1Y>_LR:_2511+selected;date=2024-08-13_11:17:21;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr22	28689188	28651	C	T	.	.	classification=1;comment=;criteria=ACMG_SVI_adaptation|1|BP4+supporting_benign+spliceAI:_CHEK2:_0.0,_REVEL:_0.036+selected$BS1+strong_benign+gnomAD_v2.1.1_FAF_Exom_>0,05%+selected$BS3+strong_benign+Delimitsou_2018/Stolarova_2023:_benign+selected;date=2024-02-15_15:10:58;scheme=ACMG_SVI_adaptation;source=heredivar
chr3	36996693	28639	A	G	.	.	classification=1;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|1|PP3+supporting_pathogenic+Applied_prior_:_0.72_(thus_>0.68_%26_≤0.81)+selected$BS2+strong_benign+Hardt_2011_(PMID:_21404117):_reported_to_co-occur_in_trans_with_a_known_pathogenic_MLH1_variant_(H329P,_ClinVar_ID:_17085)_in_a_patient_who_did_not_demonstrate_a_Constitutive_MMR-Deficiency_Disease_phenotype+selected$BS3+strong_benign+Rath_2022_(PMID:_36054288):_OddsPath_Non-functional_%1Y_5.00E-2_(thus_>_0.48)_%2B_Morak_2019_(PMID:_31332305):_No_effect_on_splicing._Drost_2019_(PMID:_30504929):__study_was_supportive_of_neither_a_pathogenic_or_benign_classification_Invitae_(Accession:_SCV000218899.13):_Advanced_modeling_of_protein_sequence_and_biophysical_properties_[...]_performed_at_Invitae_indicates_that_this_missense_variant_is_expected_to_disrupt_MLH1_protein_function_with_a_positive_predictive_value_of_80%._Various_old_functional_studies_showing_conflicting_results_regarding_effect_of_variant_on_protein_function.+selected;date=2024-10-11_13:03:00;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr17	43063370	28623	A	G	.	.	classification=3;date=2021-07-13_00:00:00;source=heredicare
chr17	43093307	28601	TAG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37047519	28581	G	A	.	.	classification=3;date=2021-12-14_00:00:00;source=heredicare
chr17	7674278	28573	A	C	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr17	43071148	28544	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7673788	28523	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32337804	28503	CTA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108310218	28492	G	C	.	.	classification=3;date=2021-02-09_00:00:00;source=heredicare
chr3	36993506	28459	C	T	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|3|PP4+supporting_pathogenic+PP4_Olfson_(2015)_PLoS_One_10:_e0135193_PubMed:_26332594%3B_Ward_RL_et_al._Genet._Med._2013%3B_15:25-35%3B_Green_RC_et_al._(2003)_Clinical_genetics_PMID:_12919137__MSI-H_tumours_1_CRC_but_MLH1_present_in_IHC_Muller-Koch_et_al.,_2001+selected$BS1+strong_benign+GnomAD_v4_Grpmax_filtering_allele_frequency_%1Y_0,000127is_≥_0.0001_and_<_0.001_(0.01-0.1%)+selected;date=2025-08-12_15:35:08;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr13	32354904	28447	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32339282	28436	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43106478	28432	A	G	.	.	classification=4;date=2018-10-09_00:00:00;source=heredicare
chr13	32379768	28425	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43063874	28401	A	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr22	28725372	28372	A	T	.	.	classification=2;date=2020-03-10_00:00:00;source=heredicare
chr13	32363371	28350	T	A	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+PS3_Strong__+selected$PM3+supporting_pathogenic+Found_in_FA-Patient_in_Würzburg_(phase_unknown)_+selected$PP3+supporting_pathogenic+BayesDel_noAF:_0.4221_+selected;date=2024-12-10_10:36:31;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43094787	28338	G	GT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32398184	28323	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214809412	28321	C	T	.	.	classification=3;comment=RNA-Analysis_required;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+not_in_gnomAD_v3+selected$PP3+supporting_pathogenic+spliceAI:_0.87,_REVEL:_0.815+selected;date=2024-05-14_10:31:24;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32376732	28305	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32380123	28286	C	T	.	.	classification=2;date=2020-08-18_00:00:00;source=heredicare
chr11	108227627	28283	G	A	.	.	classification=4;date=2016-12-08_00:00:00;source=heredicare
chr11	108325497	28271	C	T	.	.	classification=3;date=2021-04-13_00:00:00;source=heredicare
chr13	32376731	28268	G	A	.	.	classification=2;date=2020-01-14_00:00:00;source=heredicare
chr17	35107055	28266	T	C	.	.	classification=3-;date=2023-03-28_00:00:00;source=heredicare
chr2	47466694	28244	G	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+not_in_gnomAD_V3.1.2_non_cancer+selected$BS3+strong_benign+PMID:_33357406_Functional_neutral+selected;date=2024-08-13_10:44:29;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32338017	28235	C	A	.	.	classification=3;date=2018-11-13_00:00:00;source=heredicare
chr22	28695737	28229	C	T	.	.	classification=5;date=2017-05-11_00:00:00;source=heredicare
chr13	32339425	28228	A	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr3	37014554	28222	A	G	.	.	classification=1;date=2018-07-10_00:00:00;source=heredicare
chr13	32338248	28221	T	C	.	.	classification=2;date=2019-11-12_00:00:00;source=heredicare
chr17	43091712	28214	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7673833	28213	T	C	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	43091826	28188	GT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092388	28183	C	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43093931	28169	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093828	28166	G	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43091602	28149	G	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr16	68828204	28147	G	A	.	.	classification=4;date=2022-07-12_00:00:00;source=heredicare
chr17	43093910	28146	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	61859791	28128	C	A	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr17	7674220	28122	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32332762	28103	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7676215	28071	G	A	.	.	classification=5;date=2022-07-12_00:00:00;source=heredicare
chr13	32380088	28051	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43094815	28037	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr2	47806315	28016	T	A	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0|3|PP3+medium_pathogenic+Missense_variant_with_HCI_prior_probability_for_pathogenicity_%1Y_0.9_(thus_>_0.81)+selected;date=2025-12-09_11:35:56;scheme=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0;source=heredivar
chr13	32332753	28012	A	G	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr17	43124026	27959	C	T	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	43091016	27958	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108272711	27951	T	C	.	.	classification=2;date=2020-11-10_00:00:00;source=heredicare
chr17	43099914	27935	G	A	.	.	classification=1;source=heredicare
chr17	61686148	27918	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+supporting_pathogenic+Moyer,_2020_(PMID:_31822495):_Classified_as_null_allele%3B_impaired_protein's_ability_to_repair_inter-strand_cross_link_damage_in_transfected_cells_(CRISPR-Cas9_gene_editing_to_create_isogenic_HeLa_cell_lines_lacking_BRIP1_protein_and/or_expressing_candidate_missense)_+selected$PP3+medium_pathogenic+REVEL_%1Y_0.804_(thus_[0.773,_0.932)_as_per_Pejaver_(2022,_PMID:_36413997))+selected;date=2025-02-18_13:03:59;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43045712	27910	T	C	.	.	classification=4;date=2019-07-09_00:00:00;source=heredicare
chr13	32336586	27906	C	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32332694	27896	G	A	.	.	classification=3;date=2021-02-09_00:00:00;source=heredicare
chr17	43099867	27891	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43049162	27873	C	T	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|4|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30209399,_32546644,_30765603)+selected$PP3+supporting_pathogenic+missense_variant_inside_a_(potentially)_clinically_important_functional_domain_and_predicted_impact_via_protein_change_BayesDel_no-AF_score_%1Y_0.442858_(_thus_>0.28)+selected$PP4+supporting_pathogenic+Combined_LR_≥2.08_(3,1958)_(PMID:_31131967)+selected;date=2025-08-12_16:26:41;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32398875	27869	A	C	.	.	classification=1;source=heredicare
chr13	32340255	27868	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	7674212	27840	T	A	.	.	classification=4;date=2020-11-10_00:00:00;source=heredicare
chr13	32332592	27839	A	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43063909	27827	C	A	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr2	47806842	27816	T	TTTGA	.	.	classification=2;date=2016-06-22_00:00:00;source=heredicare
chr17	43056974	27809	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32337948	27804	ATGAC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32332358	27801	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28725338	27793	T	C	.	.	classification=4;date=2015-10-27_00:00:00;source=heredicare
chr17	43057051	27785	C	G	.	.	classification=5;date=2017-10-19_00:00:00;source=heredicare
chr13	32379370	27771	G	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43115742	27770	C	T	.	.	classification=3-;date=2019-05-14_00:00:00;source=heredicare
chr17	43049148	27769	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108365345	27746	A	G	.	.	classification=3;date=2018-04-17_00:00:00;source=heredicare
chr22	28695219	27745	G	A	.	.	classification=2;comment=Studien_PPT_eintragen!!!!;criteria=ACMG_SVI_adaptation|3|;date=2025-07-08_11:03:09;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28725336	27739	C	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+absent_from_gnomAD+selected$PP3+supporting_pathogenic+REVEL_0,903+selected;date=2025-05-13_12:32:17;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32363136	27735	G	C	.	.	classification=1;source=heredicare
chr13	32336214	27733	G	T	.	.	classification=1;source=heredicare
chr13	32376689	27727	T	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094045	27700	G	A	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr17	7673791	27684	A	G	.	.	classification=3;date=2022-02-08_00:00:00;source=heredicare
chr17	43106478	27668	A	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32371045	27649	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32346707	27633	T	C	.	.	classification=1;source=heredicare
chr2	47806363	27630	G	A	.	.	classification=2;date=2017-06-29_00:00:00;source=heredicare
chr11	108267199	27629	G	A	.	.	classification=3-;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|3|BP4+supporting_benign+REVEL_0.023,_SpliceAI_0.0+selected;date=2024-05-14_10:42:16;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr17	43104122	27613	C	G	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|BS3+strong_benign+Contradictory_functional_data_regarding_splice_effect._Protein_function_not_affected_(_neutral_Bouwman_P_et_al._Cancer_Discov,_2013_Oct%3B3:1142-55)__Class_3+selected;date=2023-12-19_16:31:35;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr13	32370522	27608	G	A	.	.	classification=1;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|1|BP4+supporting_benign+Missense_variant_inside_a_(potentially)_clinically_important_functional_domain,_and_no_predicted_impact_via_protein_change_or_splicing_(BayesDel_no-AF_score_≤_0.18_AND_SpliceAI_≤0.1)+selected$BP5+medium_benign+combined_LR_(UCSC):_0.18469+selected$BS3+strong_benign+Huang_et_al._(2025,_PMID:_39779857):_BS3_MOD_%2B_Sahu_et_al._(2025,_PMID:_39779848):_BS3_STR+selected;date=2025-11-17_19:52:37;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43094044	27607	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr16	68822138	27589	G	A	.	.	classification=1;date=2020-01-14_00:00:00;source=heredicare
chr11	108289789	27577	A	G	.	.	classification=2;date=2020-06-16_00:00:00;source=heredicare
chr13	32338201	27573	TGTAA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43045772	27567	A	G	.	.	classification=3-;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PM2+supporting_pathogenic+not_in_gnomAD_v4+selected$PP3+supporting_pathogenic+_BRCA1_BRCT_repeats,_BayesDEL:_0.416744,_spliceAI:_0_+selected$BS3+strong_benign+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_benign_control_variants_(PMID:30209399)_(BS3_met)_+selected;date=2025-11-18_11:00:52;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr16	68833284	27529	C	G	.	.	classification=2;date=2016-03-10_00:00:00;source=heredicare
chr7	5989940	27520	T	C	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|PP3+supporting_pathogenic+Revel_0.972+selected$BS1+strong_benign+MMR:_CanVIG-UK_Gene-Specific_Guidance_BS1:_MTAF_%1Y_0.0003110_[>_0.0001_(0.01%)]+selected$BS3+supporting_benign+D'Arcy_BM_(2022)_Molecular_genetics_%26_genomic_medicine:_PMS2_variant_results_in_loss_of_ATPase_activity_without_compromising_mismatch_repair._PMID:_35189042+selected;date=2024-05-02_15:58:33;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32355041	27512	G	T	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr17	43094853	27507	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43047687	27499	A	G	.	.	classification=3;date=2018-11-13_00:00:00;source=heredicare
chr17	43093569	27485	CT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32370506	27482	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32336814	27478	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32370433	27463	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43067690	27440	G	A	.	.	classification=1;date=2018-09-11_00:00:00;source=heredicare
chr13	32356521	27434	T	C	.	.	classification=4;date=2019-08-27_00:00:00;source=heredicare
chr13	32339293	27427	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	68819342	27401	C	T	.	.	classification=3;date=2021-09-14_00:00:00;source=heredicare
chr22	28725013	27399	T	G	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|;date=2025-02-18_14:27:39;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43057131	27387	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32338626	27370	C	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32357956	27365	T	C	.	.	classification=1;source=heredicare
chr17	7675122	27356	T	C	.	.	classification=4;date=2022-12-06_00:00:00;source=heredicare
chr17	7675237	27345	C	CT	.	.	classification=3;date=2020-08-18_00:00:00;source=heredicare
chr13	32357875	27340	GTGGATGGCTCATACCCTCCAATGA	G	.	.	classification=3%2B;date=2022-02-08_00:00:00;source=heredicare
chr17	43093052	27319	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108284286	27300	A	G	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|PVS1+supporting_pathogenic+Abberant_splicing_in_minigene_Assay_PMID:_31811167+selected;date=2024-08-13_10:53:56;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	7676214	27289	T	C	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr16	68822063	27273	G	A	.	.	classification=2;date=2017-10-19_00:00:00;source=heredicare
chr13	32338943	27243	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093319	27206	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32370447	27203	G	A	.	.	classification=4;date=2021-02-09_00:00:00;source=heredicare
chr16	23626234	27200	A	T	.	.	classification=4;date=2016-09-08_00:00:00;source=heredicare
chr13	32338675	27184	A	C	.	.	classification=2;date=2021-10-12_00:00:00;source=heredicare
chr13	32376776	27167	C	G	.	.	classification=3-;date=2022-12-06_00:00:00;source=heredicare
chr13	32379477	27161	T	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32332421	27145	T	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr2	214780852	27131	A	T	.	.	classification=2;date=2023-04-25_00:00:00;source=heredicare
chr17	43074584	27125	G	A	.	.	classification=1;source=heredicare
chr3	37050555	27121	C	T	.	.	classification=3;date=2017-11-23_00:00:00;source=heredicare
chr17	7674275	27117	T	C	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr17	43124078	27110	G	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43099799	27102	T	C	.	.	classification=2;date=2021-09-14_00:00:00;source=heredicare
chr2	47803464	27099	C	T	.	.	classification=2;date=2021-10-12_00:00:00;source=heredicare
chr13	32340072	27095	ACT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43124094	27093	C	T	.	.	classification=5;date=2019-02-12_00:00:00;source=heredicare
chr17	43063368	27087	T	C	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr13	32396982	27083	A	G	.	.	classification=2;date=2016-07-14_00:00:00;source=heredicare
chr13	32357884	27068	T	C	.	.	classification=3;date=2019-03-19_00:00:00;source=heredicare
chr13	32333276	27048	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43093919	27045	GGTTA	G	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|5|PVS1+very_strong_pathogenic+ENIGMA_Specifications_Table_4,+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PM5+medium_pathogenic+ENIGMA_Specifications_Table_4_+selected;date=2024-05-28_16:31:27;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr11	108244868	27032	G	T	.	.	classification=4;date=2022-11-08_00:00:00;source=heredicare
chr17	43092378	27010	A	G	.	.	classification=2;date=2021-09-14_00:00:00;source=heredicare
chr17	43045749	27000	T	TGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGA	.	.	classification=4;date=2018-01-11_00:00:00;source=heredicare
chr13	32340202	26999	TGTTA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338131	26992	G	GT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43082575	26981	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	68819425	26971	G	C	.	.	classification=4;date=2018-07-10_00:00:00;source=heredicare
chr17	43082399	26942	C	A	.	.	classification=3;date=2018-08-28_00:00:00;source=heredicare
chr17	43067594	26940	G	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|BP4+supporting_benign+spliceAI:_BRCA1:__0.0+selected$BP7+supporting_benign+BP4_met_%26_intronic_variant_located_outside_conserved_donor_or_acceptor_motif_positions_(beyond_positions_%2B7)+selected;date=2025-02-18_14:32:39;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr22	28725253	26930	C	T	.	.	classification=3;date=2017-03-16_00:00:00;source=heredicare
chr3	37011825	26920	C	T	.	.	classification=3;date=2022-09-20_00:00:00;source=heredicare
chr17	7669739	26871	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43045793	26820	T	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43092451	26814	C	T	.	.	classification=2;date=2021-07-13_00:00:00;source=heredicare
chr17	43091615	26788	A	G	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr2	47466710	26787	T	C	.	.	classification=2;date=2020-02-18_00:00:00;source=heredicare
chr17	43124022	26779	G	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43104136	26759	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	61847211	26758	G	A	.	.	classification=2;date=2019-03-19_00:00:00;source=heredicare
chr13	32338916	26739	C	T	.	.	classification=2;date=2018-09-11_00:00:00;source=heredicare
chr17	7675077	26731	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32332502	26724	GA	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32319207	26718	A	G	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr11	108365502	26706	G	A	.	.	classification=3%2B;date=2023-02-14_00:00:00;source=heredicare
chr17	7675157	26690	G	C	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr13	32326269	26685	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337387	26682	C	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PP4+supporting_pathogenic+Combined_LR_Score:_2.609+selected$BP1+strong_benign+_outside_functional_domain,_SpliceAI_0.0_+selected$BS1+supporting_benign+Filter_allele_frequency_(FAF)_>_0.002%+selected;date=2024-09-09_16:10:45;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr2	214781206	26676	T	C	.	.	classification=2;date=2023-02-14_00:00:00;source=heredicare
chr13	32339995	26665	T	G	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr17	43104166	26657	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43091930	26651	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr11	108288968	26640	C	G	.	.	classification=3;date=2016-08-11_00:00:00;source=heredicare
chr17	43092947	26635	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32319070	26633	T	A	.	.	classification=2;date=2015-05-08_00:00:00;source=heredicare
chr13	32363498	26620	AC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7675161	26615	G	A	.	.	classification=5;date=2021-09-23_00:00:00;source=heredicare
chr8	89981412	26599	C	T	.	.	classification=2;date=2017-10-19_00:00:00;source=heredicare
chr13	32339972	26569	GTAAT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339073	26566	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43074498	26554	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	68819393	26543	C	G	.	.	classification=4;date=2017-10-19_00:00:00;source=heredicare
chr17	43091826	26528	GTTTAC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43106457	26510	T	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108244065	26496	C	T	.	.	classification=2;date=2018-05-08_00:00:00;source=heredicare
chr17	7673608	26492	G	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32319305	26475	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7670655	26458	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	43092533	26455	C	T	.	.	classification=2;date=2020-10-13_00:00:00;source=heredicare
chr11	108247060	26428	C	T	.	.	classification=1;date=2019-08-27_00:00:00;source=heredicare
chr11	108332848	26419	TG	GC	.	.	classification=4;date=2016-08-11_00:00:00;source=heredicare
chr11	108331884	26395	CTCTAGAATT	C	.	.	classification=5;date=2019-03-19_00:00:00;source=heredicare
chr13	32355268	26394	AGT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37050477	26392	GT	G	.	.	classification=2;date=2020-05-12_00:00:00;source=heredicare
chr17	43093073	26385	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32340037	26382	C	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32330921	26372	T	G	.	.	classification=3;date=2021-10-12_00:00:00;source=heredicare
chr13	32379348	26345	T	G	.	.	classification=2;date=2021-09-23_00:00:00;source=heredicare
chr17	61801242	26344	C	T	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+__spliceAI:BRIP1:0.0+selected$BP7+supporting_benign+SpliceAI:_unauffällig+selected;date=2024-11-11_16:09:32;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32326564	26323	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32326502	26303	C	T	.	.	classification=3;comment=Functional_data_from_RNA-Analysis_inconclusive;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PP3+supporting_pathogenic+SpliceAI:_0,274%3B_ClinGen:_Apply_PP3_for_predicted_splicing_(SpliceAI_≥0.2)_for_silent,_missense/in-frame_(irrespective_of_location_in_clinically_important_functional_domain)_and_for_intronic_variants_outside_of_donor_and_acceptor_1,2_sites.+selected;date=2024-07-02_14:33:22;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32336846	26280	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7676584	26268	G	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr2	47408506	26247	G	A	.	.	classification=1;date=2021-03-09_00:00:00;source=heredicare
chr13	32316467	26240	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43091683	26226	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43071031	26216	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32341176	26212	G	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr22	28725045	26210	A	G	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+medium_pathogenic+Stolarova_2023:_CHK2_assay:_intermediate,_KAP1_assay:_impaired+selected$PM2+supporting_pathogenic+not_in_gnomAD_V2_and_V3+selected$PP3+supporting_pathogenic+REVEL_score_0,761+selected;date=2024-05-13_16:07:31;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43067602	26209	G	C	.	.	classification=1;date=2019-02-12_00:00:00;source=heredicare
chr13	32398747	26194	A	G	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr17	43092608	26171	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32370420	26169	C	T	.	.	classification=4;date=2020-02-18_00:00:00;source=heredicare
chr13	32363292	26162	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43091731	26161	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32340108	26155	A	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43124030	26152	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093054	26139	G	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32379884	26138	AC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32326521	26095	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+missense_variant_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_<%1Y0.01)+selected;date=2025-11-17_19:44:42;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32398388	26079	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32333275	26071	TTATAA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108354875	26064	G	A	.	.	classification=5;date=2018-04-17_00:00:00;source=heredicare
chr17	43091759	26017	CCT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337617	26012	C	T	.	.	classification=2;comment=BRCA2_"coldspot"_variant;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+missense_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected$BS1+supporting_benign+FAF_>_0.00002+selected;date=2023-12-19_11:55:41;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	43094466	26007	C	T	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr13	32333282	25986	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43094134	25976	C	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32396803	25971	A	C	.	.	classification=1;source=heredicare
chr17	43093009	25962	C	T	.	.	classification=2;date=2018-03-20_00:00:00;source=heredicare
chr13	32394804	25961	C	A	.	.	classification=4;date=2023-01-10_00:00:00;source=heredicare
chr13	32333123	25951	A	G	.	.	classification=2;comment=Coldspot_variant_PM2_sup,_BP1_str;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|PM2+supporting_pathogenic+absent_from_gnomAD+selected$BP1+strong_benign+missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1).+selected;date=2023-12-13_12:21:20;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	7673579	25949	G	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32379316	25943	G	A	.	.	classification=5;date=2018-10-09_00:00:00;source=heredicare
chr13	32379828	25928	T	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43093387	25926	G	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32362645	25911	C	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr2	214752442	25902	C	T	.	.	classification=4;date=2020-08-18_00:00:00;source=heredicare
chr13	32340836	25889	GACAA	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092720	25873	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	23635076	25872	G	A	.	.	classification=2;date=2022-12-06_00:00:00;source=heredicare
chr17	43115744	25822	C	A	.	.	classification=4;date=2018-10-09_00:00:00;source=heredicare
chr13	32376654	25821	C	G	.	.	classification=1;source=heredicare
chr17	43049193	25817	A	G	.	.	classification=2;date=2017-12-21_00:00:00;source=heredicare
chr13	32337305	25814	G	GA	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|5|PVS1+very_strong_pathogenic+Null_variant_(nonsense,_frameshift,_splice_site_(donor/acceptor_%2B/-1,2),_initiation_codon,_single_or_multi-exon_deletion)_in_a_gene_where_loss_of_function_(LOF)_is_a_known_mechanism+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PM5+medium_pathogenic+See_ENIGMA_Specifications_Table_4_for_PM5_PTC_code_strengths_applicable_per_exon_(PM5_PTC_S)+selected;date=2024-05-28_15:38:48;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr22	28695710	25813	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PP3+supporting_pathogenic+last_nucleotide_of_exon_11_SpliceAI:_Donor_Loss_(canonical_donor_splice_site)_0.52_(0.96_-->_0.44)_+selected;date=2026-03-10_11:24:02;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	47806495	25808	C	CTAT	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0|3|PM2+supporting_pathogenic+gnomAD_v4.1_nfe_21_in_1179998_<_1/50,000+selected$BP5+supporting_benign+this_variant_has_been_identified_in_multiple_probands_whose_Lynch_syndrome-associated_tumors_demonstrated_normal_mismatch_repair_protein_expression_by_immunohistochemistry_(IHC)_(Ambry_internal_data%3B_Haraldsdottir_S_et_al._Nat_Commun,_2017_05%3B8:14755)+selected;date=2025-07-09_12:33:38;scheme=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0;source=heredivar
chr13	32394928	25795	G	C	.	.	classification=3;date=2019-06-11_00:00:00;source=heredicare
chr13	32337936	25781	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr16	23624112	25765	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|2|BP4+supporting_benign+SpliceAI_<_0,1+selected$BS1+strong_benign+MAF_0,02989%_in_gnomAD_V2,0,05%_in_gnomAD_V3+selected;date=2024-08-13_11:24:08;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr22	28694041	25763	CG	C	.	.	classification=5;date=2022-07-12_00:00:00;source=heredicare
chr17	43094661	25743	T	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108315883	25740	G	A	.	.	classification=2;date=2017-06-29_00:00:00;source=heredicare
chr17	7669640	25716	A	G	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	43091901	25706	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7676131	25704	G	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32338541	25699	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339244	25691	C	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7676154	25681	G	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	43115766	25676	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108331877	25656	A	C	.	.	classification=5;date=2017-10-19_00:00:00;source=heredicare
chr13	32370509	25645	A	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7674954	25634	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr7	5995588	25627	A	T	.	.	classification=3;date=2020-09-18_00:00:00;source=heredicare
chr13	32338837	25615	T	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32316462	25591	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43076624	25577	G	A	.	.	classification=1;source=heredicare
chr11	108315911	25570	G	A	.	.	classification=4;date=2018-07-10_00:00:00;source=heredicare
chr13	32363406	25560	C	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP4+supporting_benign+Missense_variant_inside_functional_domain,_no_predicted_impact_via_protein_change_or_splicing_(BayesDel_no-AF_score_<%1Y_0.18_AND_SpliceAI_<%1Y0.1).+selected$BS3+strong_benign+Functional_studies_concordant:_Huang_(2025,_PMID:_39779857)%3B_Sahu_(2025,_PMID:_39779848)%3B_Hu_(2024,_PMID:_38417439):_likely_benign+selected;date=2026-01-13_11:25:33;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32341179	25555	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32356608	25524	A	G	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr17	43094515	25499	TTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28734637	25490	G	A	.	.	classification=3%2B;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+medium_pathogenic+truncating_variant_within_the_first_100bp_(before_Met.46)+selected$PS4+supporting_pathogenic+Dorling_et_al._5_in_cases_1_in_controls,_15_families_in_GC-HBOC+selected$PM2+supporting_pathogenic+gnomAD_v2/3/4_<0.001%+selected;date=2025-11-18_10:27:51;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43091924	25472	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58696702	25469	G	C	.	.	classification=4;date=2019-05-14_00:00:00;source=heredicare
chr13	32336541	25452	T	G	.	.	classification=2;comment=Coldspot_variant;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+BP1_strong:_outside_a_(potentially)_clinically_important_functional_domain_AND_nosplicing_predicted_(SpliceAI_≤0.1)+selected;date=2023-11-14_11:07:40;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr3	37025751	25436	C	T	.	.	classification=3;date=2020-09-18_00:00:00;source=heredicare
chr13	32340798	25428	C	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32362593	25411	T	G	.	.	classification=3%2B;date=2021-10-12_00:00:00;source=heredicare
chr13	32337410	25408	C	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32394773	25406	T	TTA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37001046	25401	G	A	.	.	classification=3;date=2021-04-13_00:00:00;source=heredicare
chr16	23637970	25396	A	C	.	.	classification=2;date=2017-02-09_00:00:00;source=heredicare
chr13	32338750	25379	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	61684050	25365	CTCTT	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+supporting_pathogenic+GC-HBOC_VCEP_(≥_c.2947_(p.983):_PVS1_SUP)+selected$PS4+supporting_pathogenic+This_mutation_has_been_identified_in_early_onset_breast_cancer_and_ovarian_cancer_patients_(De_Nicolo_2008_(PMID:_18628483),_Tedaldi_2017_(PMID:_28423363)%3B_Carter_2018_(PMID:_30322717))+selected;date=2025-12-09_11:21:02;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43063910	25332	C	G	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PS1+strong_pathogenic+previously_classified_pathogenic_variant_c.5116G>A_p.(Gly1706Arg)+selected$PS3+strong_pathogenic+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMID:30209399)+selected$PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v2,_v3,_v4)+selected$PP3+supporting_pathogenic+missense_variant_inside_a_(potentially)_clinically_important_functional_domain_and_predicted_impact_via_protein_change_(BayesDel_no-AF_score_%1Y0.39)+selected;date=2025-09-09_11:38:13;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43071102	25325	T	C	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr11	108281168	25321	G	A	.	.	classification=5;date=2016-06-22_00:00:00;source=heredicare
chr17	61683943	25308	G	A	.	.	classification=2;date=2022-12-06_00:00:00;source=heredicare
chr10	87933156	25305	G	A	.	.	classification=3;comment=;criteria=ClinGen_ACMG_PTEN_v3.1.0|3|PS3+supporting_pathogenic+No_phosphatase_activity_(Waite_et_al._PMID:_11875759,_adapted_from_Han_et_al._PMID:_10866302)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PP2+supporting_pathogenic+Missense_variant_in_a_gene_that_has_a_low_rate_of_benign_missense_variation_and_where_missense_variants_are_a_common_mechanism_of_disease.+selected$PP3+supporting_pathogenic+REVEL:_0.777+selected;date=2025-11-17_19:42:46;scheme=ClinGen_ACMG_PTEN_v3.1.0;source=heredivar
chr13	32332621	25303	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108334951	25294	T	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|3|PM2+supporting_pathogenic+Frequency_<%1Y.001%_in_gnomAD_v4_dataset+selected$BP4+supporting_benign+_Splicing:_No_predicted_impact_via_splicing_(SpliceAI_≤0.1)+selected;date=2025-12-09_11:51:53;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr17	43090944	25278	C	T	.	.	classification=5;date=2017-10-19_00:00:00;source=heredicare
chr22	28725277	25268	C	T	.	.	classification=2;date=2021-02-09_00:00:00;source=heredicare
chr17	7673775	25242	C	T	.	.	classification=3;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|3|PM1+medium_pathogenic+This_rule_can_be_applied_to_variants_in_hot_spots_(codons_175,_245,_248,_249,_273,_282)+selected$PP3+supporting_pathogenic+AGVGD:_C35,_BayesDEL:0.477696_Fortuno_et_al._2019_high_probabilty_of_pathogenicity_(>99%)+selected$BS3+supporting_benign+Kato_2003:_partially_functional_/_Giacomelli_2018:_unclassified_/_Kotler_2018:_no_LoF_RFS_score:_-1,61029460421_[cutoff_RFS_score_>_−1.0_for_LOF_and_RFS_score_<_−1.0_for_noLOF]+selected;date=2024-01-09_11:59:29;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr13	32356426	25212	A	T	.	.	classification=5;source=heredicare
chr17	43047666	25202	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43082447	25190	G	C	.	.	classification=2;date=2018-07-10_00:00:00;source=heredicare
chr22	28725028	25168	G	A	.	.	classification=1;comment=;criteria=ACMG_SVI_adaptation|2|BS1+supporting_benign+gnomAD_v2_(non-cancer)_South_Asian_0,05%+selected$BS3+strong_benign+Storalova_(PMID:_37449874)_%26_Delimitsou_(PMID:_30851065)_benign+selected;date=2024-11-12_12:24:17;scheme=ACMG_SVI_adaptation;source=heredivar
chr3	37025867	25161	G	A	.	.	classification=2;date=2020-10-13_00:00:00;source=heredicare
chr17	61683395	25142	C	T	.	.	classification=3;date=2021-11-09_00:00:00;source=heredicare
chr17	43094083	25122	ATAAT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43124078	25108	G	A	.	.	classification=3-;date=2017-03-16_00:00:00;source=heredicare
chr13	32340678	25078	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7674947	25069	A	C	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr17	7670700	25058	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32362626	25051	GCCTTT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7674269	25027	T	G	.	.	classification=3;date=2021-09-23_00:00:00;source=heredicare
chr2	47403196	25026	C	T	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr3	37025749	25017	T	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	58696687	25016	T	A	.	.	classification=3;date=2019-04-09_00:00:00;source=heredicare
chr17	43093286	25009	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32379392	24996	A	T	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr17	43094731	24985	GAA	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28712019	24966	T	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+Null_variant_(nonsense,_frameshift,_canonical_%2B/-1_or_2_splice_sites,_initiation__codon,_single_or_multi-exon_deletion)_in_a_gene_where_loss_of_function_(LOF)__is_a_known_mechanism_of_disease_+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-05-28_17:09:31;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32319074	24940	T	G	.	.	classification=2;date=2023-03-28_00:00:00;source=heredicare
chr13	32326499	24928	G	T	.	.	classification=4;date=2017-11-23_00:00:00;source=heredicare
chr17	43093454	24904	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32379800	24868	G	A	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|4|PS3+strong_pathogenic+ENIGMA_Table_9,_PS3_PMIDs:29988080,_29884841+selected$PM2+supporting_pathogenic+absent_from_controls_from_gnomAD_v2.1_(non-cancer,_exome_only_subset)_and_gnomAD_v3.1_(non-cancer)+selected$PP3+supporting_pathogenic+BayesDel_no-AF_score:_0.3533_(cuttoff_≥0.30)+selected$PP4+medium_pathogenic+Combined_LR_(Odds_for_Causality):_7,653891318_(Parson_et_al_2019)__+selected;date=2024-02-15_10:24:59;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr13	32380116	24851	G	T	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr17	7675140	24835	G	A	.	.	classification=3;comment=PM1,_PP3,_PS4_sup;criteria=ClinGen_ACMG_TP53_v1.4.0|3|PS4+supporting_pathogenic+Identified_in_multiple_families_fullfilling_chompret_criteria_see_ClinVar+selected$PM1+medium_pathogenic+%23_of_IARC_somatic_mutations_(human_tumors)_21%3B_5_somatic_observations_cancerhotspots.org+selected$PP3+medium_pathogenic+BayesDel_noAF_noAF_score_0.5145,_Substitution_GV_GD_PredictionR158C_0.00_179.53_Class_C65+selected$BS3+supporting_benign+Transactivation_assays_in_yeast_(IARC_classification_based_on_data_from_Kato_et_al,_2003)_that_demonstrate_a_partially_functioning_allele_(>20%_and_<%1Y75%_activity)_AND:_No_evidence_of_DNE_%2B_no_evidence_of_LOF_from_Giacomelli,_et_al_data.+selected;date=2023-12-19_12:09:55;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr13	32370978	24814	G	A	.	.	classification=3;comment=Divergent_results_of_functional_assays_Hu_2024,_Huang_2025:_BS3%3B_Sahu_2025_PS3;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PM2+supporting_pathogenic+gnomADv3:_absent,_gnomADv4:_1/1179974_alleles+selected;date=2025-11-18_11:25:07;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32398715	24796	C	T	.	.	classification=2;comment=2x_FLOSSIES%3B_Dorling_et_al:_6/53261_controls_vs_7/60466_cases;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PP4+supporting_pathogenic+Combined_LR_Score_%1Y_3.41863_(as_per_ENIGMA_BRCA1/BRCA2_specs_1.1.0_Track_Hub)+selected$BP1+strong_benign+_missense_variant_outside_linically_important_functional_domain_(BayesDEL:_-0.332646,_SpliceAI_0)__+selected$BS1+supporting_benign+FAF_in_gAD_v3_non-cancer_%1Y_0.00002_/_in_gAD_v2_non-cancer_%1Y_0.00001494+selected;date=2025-07-09_12:59:20;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32332938	24754	C	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32398537	24708	G	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43090946	24703	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43104072	24687	AAAAAAAAAGAAAAG	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43092022	24682	AT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214769314	24668	T	C	.	.	classification=4;date=2022-12-06_00:00:00;source=heredicare
chr17	43092115	24662	C	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32340702	24638	A	G	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr13	32336675	24628	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43093653	24618	T	TACTA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43091820	24609	T	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr8	89980731	24602	T	C	.	.	classification=3;date=2017-06-29_00:00:00;source=heredicare
chr17	43063931	24601	G	A	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30257991,_32546644,_30765603)_+selected$PM3+supporting_pathogenic+compound_heterozygous_in_Fanconi_patiens_(PMID:_25472942,_PMID:_29712865,_PMID:_33098347)+selected$PP3+supporting_pathogenic+missense_variant_inside_clinically_important_functional_domain_(BayesDEL:_0.429093)_+selected$PP4+very_strong_pathogenic+Combined_LR_Score_%1Y_41690323.68914_(as_per_ENIGMA_BRCA1/BRCA2_specs_1.1.0_Track_Hub)+selected;date=2025-07-08_12:12:18;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr16	23629146	24587	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr11	108304736	24580	A	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32326097	24564	TTAGTCCTGTTGTTCTACAA	T	.	.	classification=5;source=heredicare
chr10	87863299	24551	C	T	.	.	classification=2;date=2022-09-20_00:00:00;source=heredicare
chr17	43093529	24527	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43104167	24499	G	T	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr2	47475039	24453	A	G	.	.	classification=3;date=2021-09-14_00:00:00;source=heredicare
chr13	32339027	24432	A	C	.	.	classification=3;date=2018-03-20_00:00:00;source=heredicare
chr13	32333064	24431	TTAAA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32333222	24429	A	C	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr17	43063888	24426	A	C	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr7	6006035	24416	G	C	.	.	classification=2;comment=;criteria=ACMG_standard|3|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP4+supporting_benign+spliceAI:PMS2:0.0+selected$BS3+strong_benign+Own_splicing_analysis_showed_no_effect_on_splicing_+selected;date=2024-01-17_13:58:00;scheme=ACMG_standard;source=heredivar
chr13	32398604	24413	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108330234	24412	G	A	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|3|PM3+medium_pathogenic+PM3_sup_-->_2_Pat._mit_consistent_phenotype_(ataxia)_(1.0_%2B1.0_pts)_McGrath-Morrow_2020:_1_Pat._33yrs_mit_milder_AT_(AT001)_mit_pathogener_c.7638_7646delTAGAATTTC%3B_ataxia_<8yrs,_AFP:_36.8ng/mL%3B_no_immunodefiency,_no_malignancy/fatty_liver_Kim_2023:_1_female_Pat._(DDP_ATCP_299)_mit_putativ_comp._het._c.7638_7646del_p.Arg2547_Ser2549del%3B_als_VUS,_WGS,_keine_2._Kandidaten-Variante%3B_AT_diagnosis_at_32yrs,_first_neurol_symp_<2yrs_Mahdieh_2024:_1_Pat._(%2342)_hom._mit_AT_(keine_sonstigen_klinischen_Angaben)+selected;date=2025-09-09_11:13:43;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr17	43049113	24403	A	G	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr17	43094585	24331	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr7	5999199	24308	T	G	.	.	classification=3;date=2022-02-08_00:00:00;source=heredicare
chr13	32356472	24291	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094075	24263	A	G	.	.	classification=1;date=2022-09-20_00:00:00;source=heredicare
chr13	32319240	24239	T	G	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr13	32339624	24229	TATAA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43076487	24203	C	T	.	.	classification=4;date=2017-05-11_00:00:00;source=heredicare
chr13	32326144	24181	A	AAG	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	68822055	24165	A	G	.	.	classification=3;date=2023-04-25_00:00:00;source=heredicare
chr17	43067677	24155	C	A	.	.	classification=2;date=2022-02-08_00:00:00;source=heredicare
chr16	68738334	24125	ACCCTGGCTTTGACG	A	.	.	classification=5;date=2019-10-08_00:00:00;source=heredicare
chr11	108307884	24114	TTTTG	T	.	.	classification=4;date=2018-05-08_00:00:00;source=heredicare
chr13	32363370	24113	A	C	.	.	classification=4;date=2016-06-22_00:00:00;source=heredicare
chr17	58734199	24103	C	T	.	.	classification=3;date=2019-03-19_00:00:00;source=heredicare
chr11	108256249	24093	G	A	.	.	classification=2;date=2023-04-25_00:00:00;source=heredicare
chr13	32394869	24088	T	C	.	.	classification=3%2B;date=2023-03-28_00:00:00;source=heredicare
chr17	43063951	24076	T	G	.	.	classification=4;date=2020-01-14_00:00:00;source=heredicare
chr13	32333283	24064	G	GA	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PVS1+very_strong_pathogenic+see_specifications_table_4_exon_10:_PVS1_and_PM5_Stron_(PTC)+selected$PS4+strong_pathogenic+Dorling_2021_(PMID:_33471991)_20/60,466_breast_cancer_cases_%26_1/53,461_controls_%26_PS4_Calculator:_OR_%1Y_17.69_(95%CI%1Y2.37-131.85)+selected$PM3+medium_pathogenic+Wagner_2004_(PMID:15070707):_found_in_trans_with_pathogenic_variant_c.7878G>C_(p.Trp2626Cys)_(Variation_ID:_38125,_Reviewed_by_expert_panel)_-->_2_P_Myers_2011_(PMID:_21548014):_found_wih_pathogenic_variant_c.631%2B2T>G_(Variation_ID:_9349,_Reviewed_by_expert_panel)_-->_1_P_⇒_3_P+selected$PM5+strong_pathogenic+see_specifications_table_4_exon_10:_PVS1_and_PM5_Strong+selected$PP4+strong_pathogenic+s._Combined_LR_Score_%1Y_104.582_(aus_dem"_ENIGMA_BRCA1/BRCA2_specs_1.1.0"-Hub_entnommen)+selected;date=2024-11-11_10:30:27;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr16	23629194	24044	T	C	.	.	classification=2;date=2023-05-09_00:00:00;source=heredicare
chr17	7676566	24038	A	C	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr3	37011994	24026	T	A	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|3|PM2+supporting_pathogenic+Grpmax_Filtering_AF_%1Y_0.000001248_(thus_<1_in_50,000_alleles_in_gnomAD_v4_dataset)+selected$PP3+supporting_pathogenic+SpliceAI_delta_score_%1Y0.71_fpr_AL_%26_%1Y_0.89__for_AG_(thus_>%1Y_0.2)_Borelli_(2014)_(PMID:_24802709):_RNA-cDNA_analysis_showed_the_in_frame_retention_of_the_last_15_nucleotides_of_intron_7+selected$PP4+supporting_pathogenic+in_1_CRC_Borelli_2014+selected;date=2025-04-02_16:06:16;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr17	7674956	24016	TGAG	T	.	.	classification=3%2B;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|3|PS4+supporting_pathogenic+Multiple_Individuals_meeting_chompret_criteria+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-08-13_11:36:59;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	43057051	23999	C	T	.	.	classification=5;source=heredicare
chr13	32336870	23992	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr2	47806779	23991	G	C	.	.	classification=2;date=2017-06-29_00:00:00;source=heredicare
chr16	23638095	23990	T	C	.	.	classification=3%2B;date=2022-09-20_00:00:00;source=heredicare
chr13	32371042	23985	AC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47805628	23960	A	G	.	.	classification=2;date=2020-05-12_00:00:00;source=heredicare
chr13	32355282	23958	C	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32363432	23946	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43049181	23934	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28695851	23913	T	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+n%1Y1_in_gnomAD_v3+selected$BP4+supporting_benign+Revel_≤.249+selected;date=2024-06-11_09:41:45;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32340324	23891	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43106514	23873	G	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr2	47476409	23859	G	T	.	.	classification=3;date=2018-07-10_00:00:00;source=heredicare
chr13	32332812	23816	C	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32355341	23754	C	T	.	.	classification=1;source=heredicare
chr13	32339909	23742	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	35101353	23738	T	C	.	.	classification=3;date=2022-10-25_00:00:00;source=heredicare
chr3	36993612	23726	G	C	.	.	classification=1;date=2021-06-08_00:00:00;source=heredicare
chr10	87931034	23725	C	G	.	.	classification=3;date=2021-11-09_00:00:00;source=heredicare
chr17	61799281	23711	C	T	.	.	classification=3;date=2019-04-09_00:00:00;source=heredicare
chr17	58696794	23710	T	C	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+Revel_%1Y_0,078_(und_damit_(0.016,_0.183]_)+selected$BS1+supporting_benign+gnomAD_v4.1.0_Grpmax_Filtering_AF%1Y_0,0002256_(%1Y_0,02%)_319x_in_gnomAD_v4.1.0+selected$BS3+strong_benign+Meindl_(2009,_PMID:_20400964):_NEUTRAL:_"...expression_of_the_[...]_V169A_[...]_missense_RAD51C_complementary_DNAs_corrected_the_mitomycin_C_hypersensitivity_of_Rad51c_mutant_DT40_cells_to_levels_achieved_by_expression_of_the_wild-type_RAD51C_cDNA."_Hu_(2023,_PMID:_37253112):_NEUTRAL:_"..._p.Val169Ala_(V169A)_[...]_remained_neutral_in_the_HDR_assay._The_WT_and_mutant_forms_of_RAD51C_expressed_equally."+selected;date=2024-11-11_16:05:51;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32336446	23686	A	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32336294	23683	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32338271	23669	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43093097	23649	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32376700	23632	G	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|BP4+supporting_benign+BayesDel_no-AF_-0.1726,__SpliceAI_0.01_+selected;date=2024-05-14_11:09:51;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	43095875	23622	T	C	.	.	classification=1;date=2019-10-08_00:00:00;source=heredicare
chr17	7674286	23606	C	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32337772	23590	G	A	.	.	classification=2;date=2016-12-08_00:00:00;source=heredicare
chr22	28689135	23584	C	A	.	.	classification=3;date=2020-11-10_00:00:00;source=heredicare
chr17	7674238	23549	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	7675139	23538	C	A	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr17	43071098	23529	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43047681	23526	A	C	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_with_discordant_results.+unselected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected$BP4+supporting_benign+BayesDel_no-AF_%1Y_-0.2167_SpliceAI_<%1Y0.1+selected;date=2025-04-07_20:23:51;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32370382	23517	A	G	.	.	classification=3;source=heredicare
chr13	32332365	23484	A	G	.	.	classification=2;date=2021-07-13_00:00:00;source=heredicare
chr17	43047702	23474	C	G	.	.	classification=5;date=2016-07-14_00:00:00;source=heredicare
chr17	43094113	23456	T	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43091477	23435	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43092844	23419	CTT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43063946	23416	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58692723	23378	T	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Functional_studies_have_shown_that_this_variant_significantly_reduced_homologous_recombination_activity_(PMID:_36099300,_37253112),_sensitivity_to_cisplatin_and_olaparib_(PMID:_37253112),_and_impacts_function_(PMID:_39299233)_Fast_depleted_in_SGE_(Olvera-León)+selected$PM2+supporting_pathogenic+2x_in_gnomAD_V4,_nicht_in_gnomAD_V2+selected$PP3+supporting_pathogenic+REVEL_%1Y_0.710_(thus_[0.644,_0.773),_as_per_Pejaver_(2022,_PMID:_36413997))+selected$PP4+supporting_pathogenic+This_variant_has_been_reported_in_two_individuals_affected_with_ovarian_cancer_(PMID:_26261251,_36099300)_and_in_an_individual_affected_with_breast_cancer_(PMID:_35127508)._In_GC-HBOC_center_Cologne_found_in_2_daughters_of_independent_OC_patients,_one_BC_patient_and_in_tumor_material_of_an_additional_OC_patient._+selected;date=2025-07-09_14:12:35;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32397002	23369	G	C	.	.	classification=2;date=2023-04-25_00:00:00;source=heredicare
chr17	7673776	23363	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	43094708	23361	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32380214	23355	T	C	.	.	classification=1;source=heredicare
chr17	43092540	23354	A	ATT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108235710	23344	C	A	.	.	classification=2;date=2022-10-25_00:00:00;source=heredicare
chr17	7674241	23332	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	43092184	23331	ACTT	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr22	28687965	23326	GC	G	.	.	classification=3;date=2020-02-18_00:00:00;source=heredicare
chr13	32329548	23315	C	T	.	.	classification=1;source=heredicare
chr22	28725272	23307	A	G	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Stolarova_2023:_KAP1_und_CHK2_assay_damaging+selected$PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v2/3)+selected$PP3+supporting_pathogenic+REVEL:_0.757_(cutoff_>_0.733)+selected;date=2024-05-03_09:03:54;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43094768	23278	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43099856	23257	G	A	.	.	classification=3;date=2020-08-18_00:00:00;source=heredicare
chr11	108256312	23250	A	G	.	.	classification=3;date=2021-02-09_00:00:00;source=heredicare
chr13	32398385	23246	C	G	.	.	classification=3;date=2018-03-20_00:00:00;source=heredicare
chr17	43045709	23241	A	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr13	32341061	23234	G	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain_AND_nosplicing_predicted_(SpliceAI_≤0.1)+selected$BS1+supporting_benign+FAF_(exomes)_0.00003129_(>0.00002)+selected;date=2024-06-10_16:50:58;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	7673772	23222	C	T	.	.	classification=3;date=2021-04-13_00:00:00;source=heredicare
chr13	32339181	23211	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092965	23205	A	G	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr2	47471033	23196	T	C	.	.	classification=2;date=2021-02-09_00:00:00;source=heredicare
chr22	28734461	23194	CTCCTCAGGTTCTTGG	C	.	.	classification=3;date=2023-04-25_00:00:00;source=heredicare
chr17	43115723	23183	T	TA	.	.	classification=3%2B;date=2022-05-17_00:00:00;source=heredicare
chr13	32325102	23181	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32371000	23158	AAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32398764	23155	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	35100447	23127	AGCTTATTTCCACCCAGTAACTCAGAGACAGAGCTAAGGAAGAGTGGGCCCCCATCTAACAAATGGAAAGGCAGAGACAAAAGAAAAAAAAGGCAGCAGCAGCAAAGGCAAGTTAGAGGCTTTCCCGGCTTGGCCACTGCGCTAGGAGGGAGCACAGGACACAATGGTGATGCACAGGATTATCCATCCAGTCGCCAGCATGCCTCATCAGAGATGCTCCCAGCCAGGGTGAACTTGGTTTCCACCAGAAACATACACGTTAGAAATAAGGGAAGGAAACGTGGCACCAGTATGAATTTCTGGGTCCTCGCAATGCAGCATCCTCTTTCGCCTGTGGTTTATATGCTTACAGAGAGTGAGGCCAAGGAACCCAAGATGTCTCTTCTGGCCAGCCTGAGAACGTCTGTAGTCACCAGTGCCAGGTGGCAGTAAACAGCAGGCGTTACTGGGAAGAAAAGTTGGGAGGGGTCCCCAATGCTTCCCTGTTTCCCAAACAACAGCACAGGTCATGTCTGATCACCCTGTAATGTGGCACTCTGCTCTGAGGTCCCCCAGGTCCCAATGTCTACCATCTCCTGGAAACCTGTTGGCTGGAAGAAGAAGTAAGGAGTCAGTGGAGTTAAGCAACCCAAGTGGGTAGCTTCTTTAGTTGCAAGGTTTCAGCCTCTAAAGAGTTCTTCTCGAAGACATCTGTGGGTATGGAAACCACCCTCCAGGGCCCAAGATTACTGGCATCTTCCTGGGGCTGGCTCACCTGTCGG	A	.	.	classification=4;date=2017-11-23_00:00:00;source=heredicare
chr13	32332817	23115	CCA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108249105	23114	A	G	.	.	classification=4;date=2022-11-08_00:00:00;source=heredicare
chr17	43091495	23105	C	T	.	.	classification=2;date=2018-04-17_00:00:00;source=heredicare
chr13	32326282	23100	G	A	.	.	classification=4;date=2019-03-19_00:00:00;source=heredicare
chr13	32337158	23093	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43099934	23089	TC	T	.	.	classification=1;source=heredicare
chr13	32319314	23076	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32376760	23075	T	G	.	.	classification=2;date=2023-04-25_00:00:00;source=heredicare
chr16	23630024	23066	C	T	.	.	classification=2;date=2019-03-19_00:00:00;source=heredicare
chr13	32332644	23036	C	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr11	108316069	23016	G	A	.	.	classification=4M;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|3|PS3+supporting_pathogenic+PMID:_35154108_-_Lisa_+selected$PM3+strong_pathogenic+Observed_with_a_second_pathogenic_ATM_variant_in_trans_in_several_individuals_who_had_a_milder_phenotype_of_ataxia_telangiectasia_(e.g._Charlesworth_2013%3B_PMID:_23946315)%3B_Patients_typically_showed_segmental_dystonia_in_some_cases_with_conjunctival_telangiectasia,_a_phenotype_corresponding_to_variant_ataxia_telangiectasia,_characteristic_to_missense_mutations_that_leave_some_residual_ATM_kinase_activity_(Schon_2019%3B_PMID:_30549301)._Invitae:_This_missense_change_has_been_observed_on_the_opposite_chromosome_(in_trans)_from_a_pathogenic_variant_in_ATM_in_an_individual_who_was_not_affected_with_recessive_ATM-related_conditions_(Accession-ID:_SCV000218611.13)._+selected$BP4+supporting_benign+REVEL_0.21_+selected;date=2026-02-10_10:50:45;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr13	32339001	23012	AAGAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37040279	22979	A	G	.	.	classification=1;date=2022-09-20_00:00:00;source=heredicare
chr13	32370456	22974	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7669620	22971	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr11	108293410	22937	T	C	.	.	classification=2;date=2020-08-18_00:00:00;source=heredicare
chr17	43106528	22913	C	T	.	.	classification=5;date=2018-03-20_00:00:00;source=heredicare
chr2	47410226	22908	G	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	61808495	22905	T	C	.	.	classification=1;date=2021-02-09_00:00:00;source=heredicare
chr16	68815760	22886	G	A	.	.	classification=4;date=2019-05-14_00:00:00;source=heredicare
chr17	61683652	22882	AATAG	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+supporting_pathogenic+GC-HBOC_VCEP_(≥_c.2947_(p.983):_PVS1_SUP)+selected$PS4+supporting_pathogenic+Identified_in_individuals_with_prostateCA_(Hayano_2016,_PMID:_27701467),_breastCA_(Li_2018,_PMID:_30385609%3B_Vasmatzis_2020,_PMID:_30385609)_and_pancreaticCA_(Emelyanova_2022,_PMID:_35309086)+selected;date=2025-12-09_11:17:27;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32341103	22875	A	G	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr13	32332629	22848	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr16	68812144	22823	A	G	.	.	classification=1;date=2020-11-10_00:00:00;source=heredicare
chr11	108267312	22822	A	G	.	.	classification=2;date=2020-10-13_00:00:00;source=heredicare
chr17	61684098	22811	AT	A	.	.	classification=4;date=2018-07-10_00:00:00;source=heredicare
chr13	32354922	22808	C	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43094538	22803	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32326272	22789	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32336293	22779	C	T	.	.	classification=2;date=2016-07-14_00:00:00;source=heredicare
chr13	32332877	22753	AAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47429888	22738	A	G	.	.	classification=3;date=2021-09-14_00:00:00;source=heredicare
chr17	43070963	22733	A	G	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|4|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30209399,_32546644,_30765603)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PP3+supporting_pathogenic+missense_variant_inside_a_(potentially)_clinically_important_functional_domain_and_predicted_impact_via_protein_change_BayesDel_no-AF_score_0.360188_(thus_>_0.28)+selected;date=2025-08-12_12:12:49;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32398276	22714	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32398432	22698	A	G	.	.	classification=3;date=2023-04-25_00:00:00;source=heredicare
chr13	32341107	22677	A	AT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32340729	22640	C	CA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092263	22635	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32333183	22622	C	A	.	.	classification=2;date=2023-03-28_00:00:00;source=heredicare
chr11	108227872	22613	T	G	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr17	7676043	22612	A	G	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr13	32338596	22591	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43049195	22575	C	G	.	.	classification=5;date=2020-10-13_00:00:00;source=heredicare
chr13	32394740	22551	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32340205	22545	TAGTTTGGAAACTTC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339174	22537	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43104968	22496	T	C	.	.	classification=5;date=2022-01-18_00:00:00;source=heredicare
chr13	32339990	22493	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43093583	22489	TCTCTTCACTG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338216	22477	TAATA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32370526	22448	A	T	.	.	classification=3%2B;date=2023-02-14_00:00:00;source=heredicare
chr17	7675994	22440	C	T	.	.	classification=5;date=2021-06-08_00:00:00;source=heredicare
chr22	28695243	22426	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+medium_pathogenic+PVS1_decision_tree_as_per_Tayoun_(2018,_PMID:_30192042):_GT-AG_splice_sites_-->Use_of_a_cryptic_splice_site_preserves_reading_frame_(Splice_AI_predicts_canonical_AL_%26_AG_at_-7bp)_-->_LoF_variants_in_this_exon_are_not_frequent_in_the_general_population_and_exon_is_present_in_biologically-relevant_transcript(s)_-->_Variant_removes_<10%_of_protein_-->_Moderate+selected$PM2+supporting_pathogenic+ansent_from_gnomAD_v2%3B_1x_het_in_gnomAD_v3/4+selected;date=2025-04-07_20:38:30;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	61685976	22420	A	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+predicted_to_undergo_NMD,_present_in_relevant_transcript+selected$PM2+supporting_pathogenic+gnomAD_v4.1.0:_y0,001%_(11xhet)_-->_<0,002%+selected;date=2025-10-14_11:39:18;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32338692	22408	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	61744589	22400	T	C	.	.	classification=2;date=2022-03-08_00:00:00;source=heredicare
chr13	32337465	22399	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108335848	22343	C	T	.	.	classification=3;date=2017-06-29_00:00:00;source=heredicare
chr13	32337281	22335	TC	AT	.	.	classification=1;date=2023-03-28_00:00:00;source=heredicare
chr2	47800686	22334	T	G	.	.	classification=2;date=2021-01-12_00:00:00;source=heredicare
chr22	28694064	22327	TCGTAAAACGTGC	T	.	.	classification=3;date=2019-11-29_00:00:00;source=heredicare
chr17	43092418	22321	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32336432	22288	T	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32326115	22277	A	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr11	108321351	22264	C	T	.	.	classification=3%2B;date=2023-01-10_00:00:00;source=heredicare
chr13	32356526	22255	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	58692642	22241	C	T	.	.	classification=3;date=2019-01-23_00:00:00;source=heredicare
chr17	43094477	22232	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108256239	22224	C	T	.	.	classification=3;comment=;criteria=ACMG_standard|3|PM2+supporting_pathogenic+PM2_als_dummy_+selected;date=2024-01-09_11:08:43;scheme=ACMG_standard;source=heredivar
chr13	32356554	22223	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7676152	22207	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32338224	22188	G	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr7	5982986	22169	G	A	.	.	classification=2;comment=;criteria=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0|2|BP4+supporting_benign+REVEL_:_Score:_0.109+selected$BS1+strong_benign+Grpmax_Filtering_AF_(gAD_v3)_%1Y_0.0002305_(>0.0001)+selected;date=2024-09-09_15:32:34;scheme=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0;source=heredivar
chr13	32398243	22140	G	A	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr11	108257535	22130	G	A	.	.	classification=3-;date=2023-04-25_00:00:00;source=heredicare
chr13	32340968	22129	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr14	45196398	22114	T	C	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr13	32340693	22095	A	G	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr13	32340235	22088	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43091783	22083	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	35103294	22075	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32338194	22046	A	T	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr13	32337274	22039	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32356461	22033	T	C	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr17	7674872	22019	T	C	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32337461	22014	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr2	47806618	21972	T	TTGAGAAGATGAATC	.	.	classification=3%2B;date=2021-11-09_00:00:00;source=heredicare
chr17	43094018	21963	T	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43124230	21959	A	G	.	.	classification=1;source=heredicare
chr17	7676230	21944	G	A	.	.	classification=1;date=2020-09-16_00:00:00;source=heredicare
chr17	7675161	21925	G	T	.	.	classification=4;date=2019-08-27_00:00:00;source=heredicare
chr11	108335063	21910	T	C	.	.	classification=3%2B;date=2021-11-09_00:00:00;source=heredicare
chr13	32332770	21892	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32380006	21885	G	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PVS1+supporting_pathogenic+Precited_impact_on_splicing,_loss_of_24_bp_of_exon_24,_in-frame,_according_to_Table_4,_this_variant_is_given_as_PVS1_SUP+selected$PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v2/v3/v4)+selected;date=2025-07-09_12:42:18;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32344366	21880	CA	C	.	.	classification=3;source=heredicare
chr17	43057075	21862	C	T	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	43057106	21857	GACC	G	.	.	classification=3;date=2019-03-19_00:00:00;source=heredicare
chr13	32339699	21855	CAA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28696957	21840	C	T	.	.	classification=4;date=2019-10-08_00:00:00;source=heredicare
chr13	32326426	21806	A	G	.	.	classification=1;source=heredicare
chr22	28725240	21805	T	C	.	.	classification=3;date=2021-02-09_00:00:00;source=heredicare
chr11	108244868	21804	G	A	.	.	classification=3;date=2023-03-28_00:00:00;source=heredicare
chr16	68829687	21793	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32325142	21784	A	G	.	.	classification=2;comment=Kriterien_überprüfen_nach_ENIGMA_Entscheidungsbaum;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PP3+supporting_pathogenic+SpliceAI:_BRCA2:_0.39_+selected$BP7+strong_benign+BP7_STR(RNA)%3B_Fraile_Bethencourt_2019_Minigene_Exons_2–9:_Full-Length_Transcript_78%%3B_Appendices_Guidelines_Tbl.9:_Cutoff__Referenztranskript_30%_+selected;date=2024-07-09_11:20:05;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr2	47475094	21749	A	C	.	.	classification=3;date=2019-07-09_00:00:00;source=heredicare
chr11	108345813	21735	T	G	.	.	classification=3%2B;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|3|PS3+medium_pathogenic+Fernet_at_al._Br_J_Cancer_2024_(PMID:_14970866)_between_damaging_to_intermediate_+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PM3+supporting_pathogenic+Micol_(2011,_PMID:_21665257):_Identified_together_with_c.8030delA_(p.(Tyr2677Leufs*5))_in_patient_01-38500A001_(s._Supp._Data):_phase_unknown_%2B_phenotype_consistent_-->1P_-->_PM3_SUP+selected$PP3+supporting_pathogenic+REVEL_0.896+selected;date=2026-01-13_11:04:03;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr17	7669628	21734	T	G	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr22	28703519	21733	A	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+nach_Tayoun_(2018,_PMID:_30192042):_PVS1_Very_Strong+selected$PM2+supporting_pathogenic+not_in_gomAD_v2/3/4+selected;date=2024-11-11_16:27:18;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32340818	21723	C	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43063337	21691	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32340435	21688	G	A	.	.	classification=2;date=2022-04-12_00:00:00;source=heredicare
chr17	61799301	21685	TATAAG	T	.	.	classification=3;comment=;criteria=ACMG_standard|3|PP3+supporting_pathogenic+SpliceAI:_Acceptor_Loss_0.20_canonical_splice_site%3B_Acceptor_Gain_0.57_intronic_-39_bp_+selected$BP7+supporting_benign+Splicing_assay_data_demonstrating_a_variant_is_not_associated_with_aberrantly_spliced_transcript(s)_relative_to_transcript_profiles_in_controls_(s._Köln)+selected;date=2024-01-09_12:30:41;scheme=ACMG_standard;source=heredivar
chr13	32339270	21675	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32357821	21674	A	C	.	.	classification=3;date=2019-07-09_00:00:00;source=heredicare
chr11	108301655	21662	G	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|PM3+strong_pathogenic+Shalash_(2021,_PMID:_33779842):_detected_in_two_siblings_with_AT_(Phenotype_confident)_-->_4P_Coutelier_(2018,_PMID:_29482223):_detected_homozygous_in_patient_also_carrying_hom_NM_000051.3:c.9022C>T_(ClinVar_ID:_142187)%3B_reviewed_through_VCEP_as_likely_pathogenic_-->_0P+selected;date=2025-04-02_14:01:33;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	43093449	21644	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43092113	21621	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32362522	21594	G	GGA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr7	6005997	21588	G	A	.	.	classification=3-;date=2021-07-13_00:00:00;source=heredicare
chr17	43067707	21584	T	C	.	.	classification=1;source=heredicare
chr17	43063910	21569	C	T	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PS1+medium_pathogenic+gleicher_AS_Austausch_wie_c.5116G>C,_p.(Gly1706Arg),_Class_4_(TF-Beschluss_09/2020)+selected$PS3+strong_pathogenic+Findlay_2018:_LOF_(score_-2.38)_/_VCEP_Spec._Table_9+selected$PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v2%2Bv3)+selected$PP3+supporting_pathogenic+BayesDel:_0.389329+selected$PP4+very_strong_pathogenic+Caputo_et_al.,_AJHG,_2021:_Combined_(Caputo_LR/ACMG_LLR)_%1Y_2312.62_/_10.57683_+selected;date=2024-11-12_10:23:56;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr11	108365446	21568	C	T	.	.	classification=4;date=2022-07-12_00:00:00;source=heredicare
chr2	47403329	21555	C	G	.	.	classification=2;date=2020-10-13_00:00:00;source=heredicare
chr13	32330949	21511	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363204	21489	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32380095	21484	G	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43091918	21473	CT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43049117	21464	T	C	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr17	43093877	21443	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094372	21439	A	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43082453	21424	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32379804	21356	G	A	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+table_9_PS3_met_(Richardson)+selected$PM2+supporting_pathogenic+Absent_from_controls_in_an_outbred_population,_from_gnomAD_v2.1_(non-cancer,_exomeonly_subset)_and_gnomAD_v3.1_(non-cancer)+selected$PP3+supporting_pathogenic+BayesDEL:_0.351529+selected;date=2024-10-08_12:12:24;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr22	28696963	21343	G	A	.	.	classification=3;comment=BRIDGES_2X_in_60466_cases_and_2X_in_53461_controls%3B_2X_in_GC-HBOC_database;criteria=ACMG_SVI_adaptation|3|PS3+medium_pathogenic+Stolarova_2023:_KAP1:_impaired_(0,081)%3B_CHK2_impaired_(0,457)+selected$PM2+supporting_pathogenic+n%1Y1_in_gnomAD_v2,_absent_in_v3+selected$PP3+supporting_pathogenic+Revel_0.914+selected;date=2024-06-11_09:51:27;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43063345	21338	TTTTC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339375	21323	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr11	108281171	21316	A	G	.	.	classification=3;date=2021-04-13_00:00:00;source=heredicare
chr13	32362693	21286	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32329441	21276	A	G	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PP4+strong_pathogenic+other_information_not_applicable_according_to_new_guidelines_class_3,_older_guidelines_ENIGMA_(2019)_class_5_due_to_multifactorial_data+selected;date=2025-05-13_11:12:47;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32326284	21272	T	A	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PVS1+very_strong_pathogenic+PVS1_RNA_as_per_ENIGMA/ClinGen_Figure_6_(Supplements)+selected$PM2+supporting_pathogenic+not_in_gnomAD_V/2/3/4+selected;date=2024-11-11_10:25:59;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32341288	21233	T	C	.	.	classification=3;source=heredicare
chr13	32376679	21232	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32338208	21226	GA	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092405	21186	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7673773	21171	G	A	.	.	classification=2;date=2022-06-14_00:00:00;source=heredicare
chr13	32380135	21147	G	GA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32341215	21133	CT	C	.	.	classification=1;source=heredicare
chr17	43063363	21131	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32362692	21102	A	G	.	.	classification=5;date=2019-01-08_00:00:00;source=heredicare
chr13	32326117	21091	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	61693441	21076	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|BS2+supporting_benign+Homozygous_in_a_patient_without_FA_+selected;date=2025-08-13_13:07:14;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43097273	21067	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32354856	21050	T	C	.	.	classification=2;date=2019-06-11_00:00:00;source=heredicare
chr13	32379503	21043	G	GA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47476421	21023	T	C	.	.	classification=3;date=2020-01-14_00:00:00;source=heredicare
chr13	32370556	21020	A	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32371032	21006	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37017518	20996	A	G	.	.	classification=2;comment=BS1,_BS3_sup,_BP5;criteria=ACMG_standard|1|BP5+supporting_benign+3_MSS_tumours_(1_Chao_et_al.,_2008%3B_1_Hardt_et_al.,_2011%3B_1_CRC_LOVD:French)+selected$BS1+strong_benign+gnomad_0.0002404+selected$BS3+strong_benign+Y2H,_25-75%_Expression_,_75_%_MMR_activity+selected;date=2023-12-12_10:57:55;scheme=ACMG_standard;source=heredivar
chr17	43091990	20974	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32336839	20962	T	C	.	.	classification=2;date=2018-01-11_00:00:00;source=heredicare
chr17	43091771	20947	TAGAC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28725031	20935	G	A	.	.	classification=2;date=2021-11-09_00:00:00;source=heredicare
chr17	7669656	20918	G	T	.	.	classification=2;date=2021-12-14_00:00:00;source=heredicare
chr17	7676301	20916	G	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32376679	20891	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43104233	20887	CT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43124096	20848	T	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28725070	20834	C	T	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PS3+strong_pathogenic+Stolarova_et_al._2023_(PMID:_37449874)_loss_of_function,_Boonen_et_al._2022_(PMID:_35643632+selected$PS4+strong_pathogenic+Dorling_17/60466_cases_and_3/53461_controls._(OR_5.01,_p<0,05)_Stolarova_et_al._11/73048_cases_and_3/88658_controls,_OR%1Y4.09.+selected$PP3+supporting_pathogenic+REVEL:_0.955__BayesDEL:0.570002+selected;date=2024-11-12_12:27:40;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43063909	20799	C	G	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr5	112843662	20777	G	A	.	.	classification=1;date=2019-10-08_00:00:00;source=heredicare
chr17	61801249	20767	T	C	.	.	classification=4;date=2021-03-09_00:00:00;source=heredicare
chr22	28699874	20761	G	C	.	.	classification=3;date=2020-06-16_00:00:00;source=heredicare
chr17	43082539	20754	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339332	20739	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	61849284	20713	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr2	47414291	20693	C	T	.	.	classification=1;date=2020-10-13_00:00:00;source=heredicare
chr17	7674239	20683	A	C	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr17	43091833	20670	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32398389	20669	G	A	.	.	classification=1;date=2021-06-08_00:00:00;source=heredicare
chr13	32339522	20664	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr3	37014545	20656	G	A	.	.	classification=5;date=2020-10-13_00:00:00;source=heredicare
chr13	32344647	20651	C	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32337185	20640	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108244874	20633	G	A	.	.	classification=2;comment=BP2_homozygous_in_gnomAD_V2.1.1_non-neuro_subset;criteria=ClinGen_ACMG_ATM_v1.4.0|3|BP4+supporting_benign+Missense:_REVEL_score_≤.249+selected;date=2026-02-10_16:01:36;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr13	32370993	20626	G	A	.	.	classification=1;date=2022-12-06_00:00:00;source=heredicare
chr13	32333139	20621	G	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr3	37001057	20620	A	G	.	.	classification=3;date=2016-08-11_00:00:00;source=heredicare
chr16	68828157	20600	C	T	.	.	classification=3-;comment=;criteria=ClinGen_ACMG_CDH1_v3.1.0|3|PM2+supporting_pathogenic+absent_from_gnomAD_v3.1.2_(non-cancer)_gnomAD_v2.1.1_1x_251274_alleles_(thus_<%1Y_One_out_of_100,000_alleles)_gnomAD_v4.1.0_Grpmax_Filtering_AF_%1Y_0.000008030_(thus_<_≤_One_out_of_50,000)+selected$BP4+supporting_benign+three_in_silico_splicing_predictors_(SliceAI,_SSF,_MaxEntScan)_in_agreement:_no_observes_splicing_defect+selected;date=2025-07-08_11:44:05;scheme=ClinGen_ACMG_CDH1_v3.1.0;source=heredivar
chr17	43093028	20599	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr22	28699927	20594	C	T	.	.	classification=3;date=2020-03-10_00:00:00;source=heredicare
chr13	32340455	20590	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32338479	20551	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32376795	20547	A	G	.	.	classification=4;date=2015-07-10_00:00:00;source=heredicare
chr13	32337871	20544	G	A	.	.	classification=2;date=2016-07-14_00:00:00;source=heredicare
chr17	43106477	20526	C	A	.	.	classification=4;date=2021-07-13_00:00:00;source=heredicare
chr17	43045766	20507	C	G	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr17	43092422	20498	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	68812234	20496	G	A	.	.	classification=3%2B;comment=;criteria=ACMG_gene_specific:_CDH1|3|PS4+supporting_pathogenic+1_family_meets_HDGC_criteria_+selected$PM2+supporting_pathogenic+absent_in_gnomAD_v2/3_1/761,886_alleles_in_gAD_v4+selected$PP1+medium_pathogenic+5-6_meioses_across_≥1_families_+selected;date=2024-02-15_10:32:08;scheme=ACMG_gene_specific:_CDH1;source=heredivar
chr17	43104251	20465	G	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr11	108271407	20454	G	A	.	.	classification=4;date=2020-11-10_00:00:00;source=heredicare
chr16	23637954	20447	T	C	.	.	classification=4;date=2019-01-08_00:00:00;source=heredicare
chr13	32357877	20429	G	A	.	.	classification=4;date=2019-11-29_00:00:00;source=heredicare
chr16	68801896	20366	A	T	.	.	classification=2;date=2021-07-13_00:00:00;source=heredicare
chr17	43093124	20349	TCA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108365324	20344	G	C	.	.	classification=4;date=2019-08-27_00:00:00;source=heredicare
chr17	61793591	20327	T	C	.	.	classification=2;date=2019-01-23_00:00:00;source=heredicare
chr17	43097246	20315	G	A	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr17	43063882	20307	C	T	.	.	classification=5;date=2019-03-19_00:00:00;source=heredicare
chr17	61780352	20297	C	T	.	.	classification=3;date=2022-05-17_00:00:00;source=heredicare
chr17	43104967	20287	A	C	.	.	classification=5;date=2017-06-29_00:00:00;source=heredicare
chr13	32340212	20261	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092401	20254	T	C	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr17	43063935	20232	A	C	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	43091814	20205	A	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32337299	20165	A	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32397043	20163	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+missense_variant_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_%1Y0.0).+selected;date=2025-08-12_16:00:57;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43074461	20160	C	T	.	.	classification=1;source=heredicare
chr22	28711907	20158	A	G	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+as_per_Tayoun,_2018_(PMID:_30192042):_GT-AG_splice_sites_-->_Exon_skipping_or_use_of_a_cryptic_splice_site_disrupts_reading_frame_and_is_predicted_to_undergo_NMD_-->_Exon_is_present_in_biologically-relevant_transcript(s)_Feliubadaló_2017_(PMID:_28050010):_Figure_S6B_(Supplementary):_%26quot%3B_Aberrant_splicing_caused_by_the_CHEK2_c.792%2B2T>C_variant,_which_shows_the_abolition_of_the_wild-type_donor_site_of_exon_6._The_RT-PCR_analysis_showed_multiple_bands_(the_469-bp_band_corresponds_to_the_predominant_transcript)_in_the_control_samples._The_588-bp_band_belongs_to_an_aberrant_transcript_showing_a_119-bp_insertion_from_intron_6._Sequencing_of_the_aberrant_cDNA_showed_the_partial_119-bp_insertion_from_intron_6._-->_r.792_793ins792%2B1_792%2B119,_p.(Asp265Alafs*12)._RNA-Analysis_(GC-HBOC)_Intron_retention_intron_6_and_skipping_of_exons_6-8_(NMD_predicted)_+selected$PM2+supporting_pathogenic+gnomAD_v4.1.0_Grpmax_Filtering_AF_%1Y_2.900e-7_(%1Y0.00003%_/_2x_het_in_1592950)%3B_absent_from_UK_Biobank_(468530_participants)+selected;date=2025-02-18_13:37:39;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32338889	20148	C	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43090935	20136	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32398634	20122	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7670711	20118	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr2	214780747	20113	G	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP1+supporting_benign+missense_variants_%1YVUS_in_HGMD/ClinVar%3B_Missense_447_observed/415_expected:_o/e_%1Y_1.08+selected$BP4+supporting_benign+REVEL_%1Y_0.082_(as_per_Pejaver_(2022,_PMID:_36413997))+selected;date=2025-04-02_15:59:27;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32379413	20102	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43071071	20080	C	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	35101047	20071	A	T	.	.	classification=2;date=2019-05-14_00:00:00;source=heredicare
chr17	43045767	20070	G	A	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr17	58720817	20060	G	T	.	.	classification=4;date=2019-04-09_00:00:00;source=heredicare
chr17	43090966	20058	TGA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43047679	20046	G	T	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PS3+strong_pathogenic+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMID:30209399)_(PS3_met).+selected$PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v2,_v3,_v4)+selected$BP4+supporting_benign+BayesDel_no-AF_score_≤0.15_(-_0,13)_AND_SpliceAI_≤0.1_(0,03)+selected;date=2026-01-13_11:52:18;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43091807	20035	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43099908	20034	G	A	.	.	classification=1;source=heredicare
chr13	32326054	20009	G	T	.	.	classification=1;source=heredicare
chr13	32325838	19998	C	T	.	.	classification=1;source=heredicare
chr16	68823536	19982	G	A	.	.	classification=3-;date=2023-05-09_00:00:00;source=heredicare
chr13	32362681	19971	A	G	.	.	classification=4;date=2019-11-29_00:00:00;source=heredicare
chr13	32339183	19961	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32338940	19939	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr11	108256210	19937	T	G	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr16	23607979	19927	C	A	.	.	classification=3;date=2022-03-08_00:00:00;source=heredicare
chr13	32333288	19925	A	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	7673717	19918	T	C	.	.	classification=2;date=2017-11-23_00:00:00;source=heredicare
chr17	35118579	19909	G	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL_%1Y_0.2_(thus_>_0.183_but_<_0.290_as_per_Pejaver_(2022,_PMID:_36413997)_+selected$BS1+strong_benign+gnomAD_v4_Grpmax_AF_0,007%_(98x_in_ENF)+selected;date=2025-12-09_12:14:53;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32394853	19871	G	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP4+supporting_benign+BayesDel_no-AF_score_≤_0.18_AND_SpliceAI_≤0.1+selected;date=2023-12-19_12:03:04;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	43093511	19864	GT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363216	19856	A	G	.	.	classification=2;date=2021-02-09_00:00:00;source=heredicare
chr13	32326116	19846	A	G	.	.	classification=2;date=2019-05-14_00:00:00;source=heredicare
chr17	7674212	19844	T	G	.	.	classification=4;date=2021-01-12_00:00:00;source=heredicare
chr13	32339923	19837	TGAAAC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43049179	19835	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43063808	19815	C	T	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr13	32346900	19811	A	G	.	.	classification=3;date=2021-12-14_00:00:00;source=heredicare
chr17	43093112	19806	C	CT	.	.	classification=5;source=heredicare
chr13	32379793	19803	G	A	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr3	37014544	19765	C	T	.	.	classification=3;comment=;criteria=ACMG_standard|3|PM2+supporting_pathogenic+popmax:AFR_popmax_AF:4.82905e-05_popmax_AC:2+selected$PP3+supporting_pathogenic+CADD:29.9_REVEL:_0.911__BayesDEL:0.409449+selected;date=2024-01-09_10:57:09;scheme=ACMG_standard;source=heredivar
chr17	43124032	19738	A	G	.	.	classification=5;source=heredicare
chr13	32379893	19723	ACT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108343280	19720	T	C	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|2|PP3+supporting_pathogenic+Revel:_0,895_+selected$BS3+medium_benign+neutral_in_Andreassen_et_al._2025+selected;date=2025-02-18_14:46:23;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	43082550	19681	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr11	108316103	19677	G	A	.	.	classification=3;date=2021-04-13_00:00:00;source=heredicare
chr17	43104949	19656	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092229	19651	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32338423	19647	G	A	.	.	classification=2;date=2015-03-06_00:00:00;source=heredicare
chr17	43045773	19645	C	T	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|4|PS3+strong_pathogenic+Table_9:_Findlay_2018_(PMID:30209399)_-_LOF__Petitalot_2019_(PMID:30257991)_-_2P_(VUS?)_Bouwman_2020_(PMID:32546644)_-_Deleterious__Fernandes_2019_(PMID:30765603)_-_Pathogenic+selected$PS4+strong_pathogenic+PMID:_31447071_Greek_founder_mutation_identified_in_27/3531_HBOC_patients_but_not_in_1558_controls_from_greece._(OR_12_and_lower_95%CI_boundary_1.63)_+selected$PM2+supporting_pathogenic+not_in_gnomAD_V3,_only_1X_in_gnomAD_V4+selected;date=2024-11-20_13:06:00;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43095824	19644	AG	A	.	.	classification=1;source=heredicare
chr13	32379812	19639	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32355344	19627	T	C	.	.	classification=1;source=heredicare
chr13	32340677	19622	C	T	.	.	classification=1;date=2016-03-10_00:00:00;source=heredicare
chr11	108343267	19620	G	A	.	.	classification=2;comment=Scott_et_al._2002,_PMID:_11805335,__Andreassen_(2025):_neutral_2_functional_assays_vs._prediction_not_conflicting_to_PP3;criteria=ClinGen_ACMG_ATM_v1.3.0|2|PP3+supporting_pathogenic+0.839+selected$BS3+medium_benign+Scott_(2002,_PMID:_11805335):_normal_induction_of_kinase_activity_in_vitro_and_in_vivo_Andreassen_(2025):_neutral+selected;date=2025-05-13_10:46:16;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	43093604	19619	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43074471	19597	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43045761	19583	A	C	.	.	classification=4;date=2019-11-12_00:00:00;source=heredicare
chr17	43063364	19567	T	G	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PS3+strong_pathogenic+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMID:30209399)_(PS3_met).+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected;date=2025-07-08_12:05:21;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32340801	19560	T	TTA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43067608	19552	C	G	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr17	43057072	19550	T	C	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|4|PS3+strong_pathogenic+Reported_by_two_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30209399_(Findlay,_30765603_Fernandes)_(PS3_met)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PP3+supporting_pathogenic+BayesDel_no-AF_score_0.358682+selected;date=2024-06-11_09:39:45;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr13	32339569	19547	TTATTTAAG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	68829701	19541	A	T	.	.	classification=2;comment=;criteria=ClinGen_ACMG_CDH1_v3.1.0|3|BS2+strong_benign+ClinGen_CDH1:_This_variant_has_been_observed_in_at_least_100_individuals_without_DGC,_SRC_tumours_or_LBC_and_whose_families_do_not_suggest_HDGC_(BS2%3B_SCV000149761.14,_SCV000185618.5,_SCV000288464.7).+selected;date=2025-04-08_11:12:57;scheme=ClinGen_ACMG_CDH1_v3.1.0;source=heredivar
chr13	32319269	19537	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	35100953	19526	T	G	.	.	classification=3;date=2016-12-08_00:00:00;source=heredicare
chr17	43091443	19512	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43064004	19497	G	A	.	.	classification=1;source=heredicare
chr13	32370430	19492	G	A	.	.	classification=2;date=2018-10-09_00:00:00;source=heredicare
chr17	43092809	19484	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr10	87933165	19444	T	C	.	.	classification=5;date=2019-10-08_00:00:00;source=heredicare
chr17	48728343	19425	C	T	.	.	classification=R;comment=Large_prostate_cancer_case-control_meta-analysis_studies_of_this_variant_have_reported_odds_ratios_of_3.25-4.51_for_prostate_cancer_(PMID:_22841674,_23518396,_24026887)._%1Y>_establishes_Risk_allel_für_Prostatakrebs,_nach_Schmidt_et_al.,_2024,_genetics_in_medicineLarge_prostate_cancer_case-control_meta-analysis_studies_of_this_variant_have_reported_odds_ratios_of_3.25-4.51_for_prostate_cancer_(PMID:_22841674,_23518396,_24026887)._establishes_Risk_allel_für_Prostatakrebs,_nach_Schmidt_et_al.,_2024,_genetics_in_medicine;criteria=ACMG_SVI_adaptation|3|;date=2024-11-11_16:03:46;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7675065	19414	AGCAGCGCTCATGGTGGGG	A	.	.	classification=3%2B;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|4|PS2+medium_pathogenic+Kwong_(2020,_PMID:_33138793):_Confirmed_Germline_de_novo_with_VAF_%1Y_33.1%%3B_Breast_cancer_with_Age_of_Dx_of_30_-->_2P+selected$PS4+supporting_pathogenic+2_x_LFS1_Fälle_(Lefrou_L_et_al_2006,_Ayan_I_et_al_1997),_1_de_novo%3B_weitere_Daten_fehlen+selected$PM1+medium_pathogenic+10x_in_cancer_hotspots+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected$PP3+supporting_pathogenic+BayesDel:_0,6431+selected;date=2025-03-11_12:07:51;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	7676558	19404	G	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	7670613	19394	A	C	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	43095924	19383	T	G	.	.	classification=1;date=2019-10-08_00:00:00;source=heredicare
chr17	43091432	19374	T	C	.	.	classification=4M;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|4|PS4+strong_pathogenic+Altersabhänige_Penetranzen_wurden_durch_ENIGMA_berechnet_und_zeigen_ein_reduziertes_Risiko_im_Vergleich_zu_BRCA1_PTVs_(unpublished_Data,_siehe_Tabelle_unter_Assays).+selected$PM2+supporting_pathogenic+3x_het_in_GnomAD_v4.1.0_Grpmax_Filtering_AF_0,0007%_Absent_from_v3.1.2_non-cancer_sowie_v2.1.1_non-cancer+selected$PP3+supporting_pathogenic+SpliceAI:_0.64_+selected;date=2026-01-21_12:26:23;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32363389	19363	G	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32357728	19354	T	A	.	.	classification=3;date=2020-07-14_00:00:00;source=heredicare
chr17	43104249	19338	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7670630	19337	C	G	.	.	classification=1;date=2020-09-16_00:00:00;source=heredicare
chr2	47799220	19292	T	C	.	.	classification=3;date=2019-04-09_00:00:00;source=heredicare
chr13	32332379	19281	G	A	.	.	classification=3;date=2019-06-11_00:00:00;source=heredicare
chr13	32332961	19271	G	GC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093364	19269	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32337674	19244	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337553	19236	TA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094140	19188	G	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|BP1+strong_benign+silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_<%1Y0.1).+selected;date=2024-08-13_12:15:17;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43067698	19168	GA	G	.	.	classification=3;date=2018-03-20_00:00:00;source=heredicare
chr16	68813447	19121	C	T	.	.	classification=2;date=2022-05-17_00:00:00;source=heredicare
chr2	214745839	19095	G	C	.	.	classification=3-;date=2023-05-09_00:00:00;source=heredicare
chr17	43091823	19072	A	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32340433	19062	AAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339320	19054	C	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7675074	19049	C	T	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr11	108332838	19017	C	T	.	.	classification=5;date=2020-12-08_00:00:00;source=heredicare
chr16	68833324	18995	C	T	.	.	classification=3;comment=;criteria=ClinGen_ACMG_CDH1_v3.1.0|3|BS2+supporting_benign+Garcia-Pelaez_(2023,_PMID:_36436516):_indentification_of_3_probands_with_BC-Cancer_only_and_familial_history_of_cancer,_who_do_not_fulfill_the_2020_HDGC_Criteria_%2BLBC-centred_criteria_recommended_by_the_VCEP_(Blair,_2020,_PMID:_32758476)+selected;date=2026-01-13_11:32:13;scheme=ClinGen_ACMG_CDH1_v3.1.0;source=heredivar
chr13	32356477	18992	TAAG	T	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.2.0|3|;date=2026-03-13_11:59:05;scheme=ClinGen_ENIGMA_BRCA2_v1.2.0;source=heredivar
chr17	35101205	18988	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|BP4+supporting_benign+REVEL:_0.319_(<0.4)_+selected;date=2025-02-18_14:35:39;scheme=ACMG_SVI_adaptation;source=heredivar
chr3	37028825	18986	A	G	.	.	classification=3;date=2022-01-18_00:00:00;source=heredicare
chr2	214730478	18964	CAT	C	.	.	classification=5;date=2019-10-08_00:00:00;source=heredicare
chr13	32380085	18959	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	23614079	18954	A	T	.	.	classification=2;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|2|PM2+supporting_pathogenic+absent_from_controls+selected$BP7+strong_benign+Own_RNA-Assays_shows_no_impact_on_Splicing+selected;date=2024-08-13_11:23:14;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr17	43093073	18941	T	C	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr17	35100957	18939	G	A	.	.	classification=2;date=2022-10-25_00:00:00;source=heredicare
chr17	43094486	18865	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108258980	18860	T	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|2|PM2+supporting_pathogenic+Use_as_PM2_Supporting_for_variants_with_a_general_population_frequency≤.001%_in_all_sub-populations_when_N>1.+selected$BP7+medium_benign+RNA-Analysis_showed_no_effect_on_splicing+selected;date=2024-05-02_16:15:42;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr2	47783306	18845	G	T	.	.	classification=2;comment=REVEL:_0.076_(BP4),_approximately_2-fold_of_the_estimated_maximal_expected_allele_(BS1_sup),_BS3,_PMID:_28531214:_not_identified_as_MMR_abrogating;criteria=ACMG_standard|2|BP4+supporting_benign+REVEL:_0.076_(BP4),__+selected$BS1+supporting_benign+The_observed_variant_frequency_within_Non-Finnish_European_control_individuals_in_the_gnomAD_database_is_approximately_2-fold_of_the_estimated_maximal_expected_allele_frequency_for_a_pathogenic_variant_in_MSH6_causing_Hereditary_Nonpolyposis_Colorectal_Cancer_phenotype+selected$BS3+strong_benign+PMID:_28531214:_not_identified_as_MMR_abrogating_PMID:_22102614:_In_vitro_MMR_%2B+selected;date=2023-11-14_10:48:37;scheme=ACMG_standard;source=heredivar
chr11	108304673	18844	A	G	.	.	classification=5;date=2023-06-13_00:00:00;source=heredicare
chr13	32354908	18811	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32363369	18800	G	C	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PS3+strong_pathogenic+ENIGMA_Table_9%3B_Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:29988080,_33609447,_32444794)+selected$PP1+very_strong_pathogenic+Goldgar_2004_(PMID:_15290653_Table_2):_Cosegregation_13,731_/_Co-occurrence_2.0+selected$PP3+supporting_pathogenic+BayesDel_no-AF:_0.5796+selected$PP4+strong_pathogenic+LR:__79.25654_(USCS_combined_LR)_+selected;date=2025-04-07_20:13:57;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32326581	18796	C	T	.	.	classification=3;date=2017-02-09_00:00:00;source=heredicare
chr13	32396977	18784	C	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43094707	18756	C	T	.	.	classification=2;date=2018-10-09_00:00:00;source=heredicare
chr13	32379834	18739	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43094684	18734	ATGAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32319250	18726	T	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+missense_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected;date=2024-02-15_10:16:59;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr2	47445657	18701	G	A	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0|3|PVS1+strong_pathogenic+G>non-G_at_last_base_of_exon_if_first_6_bases_of_the_intron_are_not_GTRRGT+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected;date=2025-07-09_12:26:13;scheme=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0;source=heredivar
chr17	43099817	18692	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	23623068	18691	A	G	.	.	classification=3;date=2019-11-29_00:00:00;source=heredicare
chr13	32332261	18664	T	C	.	.	classification=2;date=2017-03-16_00:00:00;source=heredicare
chr13	32336961	18662	C	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7673657	18655	T	A	.	.	classification=1;date=2018-01-11_00:00:00;source=heredicare
chr19	1219317	18628	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+SpliceAI_<_0.1+selected$BS1+supporting_benign+132_het_in_gnomAD_v4.1.0_%2B_1x_hom+selected;date=2025-12-09_12:45:48;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32346886	18621	G	GT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338200	18617	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32332777	18612	CAAAA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32336584	18609	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32336605	18603	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43115754	18597	A	T	.	.	classification=2;date=2019-03-19_00:00:00;source=heredicare
chr17	43057108	18580	C	T	.	.	classification=1;source=heredicare
chr16	23624051	18548	A	C	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr17	43051093	18545	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32398558	18537	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7675142	18530	A	C	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr17	61847178	18512	C	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|;date=2025-03-11_11:47:13;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32336319	18499	C	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32370639	18481	G	A	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr17	7675140	18467	G	C	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	43094406	18432	T	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32337035	18425	G	A	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr17	58709926	18412	G	A	.	.	classification=4M;comment=;criteria=ACMG_SVI_adaptation|4|PS3+medium_pathogenic+Olvera-León_(2024,_PMID:_39299233):_only_slow-depleted_Hu_(2023,_PMID:_37253112):_intermediate_impact_Vaz_(2010,_PMID:_20400963):_partially_functional_Somyajit_(2012,_PMID:_22167183):_partially_functional_Somyajit_(2015,_PMID:_26354865):_impaired_replication_fork_maintenance_Park_(2014,_PMID:_24141787):_defective_co-immunoprecipitation_of_PALB2_and_BRCA2,_as_well_as_RAD51_and_XRCC3+selected$PM2+supporting_pathogenic+gnomAD_v4.1.0_Grpmax_Filtering_AF_%1Y_0.00000804_(%1Y0.000804%,_thus_<0.001%)+selected$PM3+medium_pathogenic+Vaz_(2010,_PMID:_20400963):_2_affected_homozygous_siblings_Blombery_(2021,_PMID:_32054657):_1_affecfted_homozygous_individual_+selected$PP1+supporting_pathogenic+Vaz_(2010,_PMID:_20400963):_2_affected_homozygous_siblings%3B_heterozygous_parents+selected;date=2026-02-10_12:02:51;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32336554	18383	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32370504	18371	G	GC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28699874	18319	G	A	.	.	classification=2;date=2017-10-19_00:00:00;source=heredicare
chr11	108293425	18298	G	A	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|BS3+supporting_benign+Barone_2009_(%26_Austen_et_al._(2008),_PMID:_18573109):_stable_ATP_kinase_activity_(s._Supp._Figure_S1)_+selected;date=2024-09-09_15:41:05;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	7675112	18284	T	G	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr13	32394937	18272	A	G	.	.	classification=2;date=2017-02-09_00:00:00;source=heredicare
chr11	108325985	18251	CATT	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43094425	18231	T	TC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108310190	18228	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr7	5982823	18193	C	T	.	.	classification=5;date=2017-02-09_00:00:00;source=heredicare
chr2	47799548	18183	A	G	.	.	classification=2;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0|1|PM2+supporting_pathogenic+Grpmax_Filtering_AF_%1Y_0.000006814_(thus_<_0,00002)+selected$BP4+supporting_benign+Applied_prior_:_0.10+selected$BP5+supporting_benign+Domingo_2005,_Berends_2002,_Niessen_2006:_j3_1x_CRC_MSI-L+selected$BS3+supporting_benign+Drost_(2012),_PMID:_22102614_-->_repair_proficient+selected;date=2024-11-19_10:44:14;scheme=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0;source=heredivar
chr13	32338472	18167	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43057116	18166	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43071149	18157	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32339041	18155	A	G	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr13	32354799	18143	A	C	.	.	classification=1;source=heredicare
chr17	7674326	18133	C	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43094823	18128	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58696864	18124	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+laut_Sanoguera-Miralles_(2020)_PMID:_33333735:_Δ(E3):_91.5%_±_0.3%_-->_Tayoun_(2018,_PMID:_30192042)_Single_to_multi_exon_deletion_disrupts_reading_frame_and_is_predicted_to_undergo_NMD_-->_Exon_is_present_in_biologically-relevant_transcript(s)_-->_PVS1_VSTR_Labcorp_internal_data:_Studies_have_shown_that_this_variant_alters_mRNA_splicing_and_is_expected_to_lead_to_the_loss_of_protein_expression.+selected$PS3+supporting_pathogenic+Olvera-León_(2024,_PMID:_39299233):_functional_classification:_fast_depleted+selected$PM3+supporting_pathogenic+Jacquinet_A_(2018):_chromosome_breakage_[mean_number_of_breaks_per_cell_was_1.06_(MMC)_and_0.32_(DEB)_-_control_was_0.04/0.08_/_triradials_and_chromosomal_gaps_were_increased]%3B_phenotype_unspecific_[short_stature,_heart_defect]+selected;date=2025-07-09_14:17:35;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	35101229	18106	A	G	.	.	classification=3;comment=PMS_sup%3B_BP4;criteria=ACMG_standard|3|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP4+supporting_benign+BP4_MOD_nach_Pejaver_Paper_bei_REVEL_0.069+selected;date=2023-11-14_12:45:48;scheme=ACMG_standard;source=heredivar
chr11	108330281	18074	C	T	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|3|PP3+supporting_pathogenic+REVEL_0.795+selected;date=2024-02-15_10:15:25;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr13	32333032	18059	A	T	.	.	classification=1;date=2018-03-20_00:00:00;source=heredicare
chr17	43051086	18055	C	A	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PM2+supporting_pathogenic+not_in_gnomAD+selected$PP3+supporting_pathogenic+_BayesDEL:_0.366249_+selected$PP4+very_strong_pathogenic+Caputo_2021_AJHG_Combined_(Caputo_LR/ACMG_LLR)__17100000000000000_/_51.03699_Co-segregation_(Caputo_LR/ACMG_LLR)__3668.96_/_11.207_Co-occurrence_(Caputo_LR/ACMG_LLR)__NA_/_NA_Family_history_(Caputo_LR/ACMG_LLR)__2.48_/_1.2401_Pathology_(Caputo_LR/ACMG_LLR)__56000000000_/_33.7926+selected;date=2024-11-11_15:38:59;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32326027	18049	T	C	.	.	classification=1;source=heredicare
chr16	68813389	18035	A	G	.	.	classification=3;comment=No_criterium_applicable;criteria=ACMG_SVI_adaptation|3|;date=2025-09-09_11:36:21;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32326553	18024	GA	GCT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339292	18009	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43124018	18000	A	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	43091931	17999	C	A	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr17	58709943	17996	G	A	.	.	classification=2;date=2019-01-23_00:00:00;source=heredicare
chr17	43063374	17987	CT	C	.	.	classification=5;source=heredicare
chr17	43093169	17986	CT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32326638	17984	C	T	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr8	89978293	17979	T	C	.	.	classification=3;date=2016-03-10_00:00:00;source=heredicare
chr13	32376644	17971	A	G	.	.	classification=1;source=heredicare
chr11	108331876	17947	C	T	.	.	classification=3;date=2018-11-13_00:00:00;source=heredicare
chr17	43124125	17946	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	61799185	17923	G	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BS1+supporting_benign+84x_het_in_gnomAD_non_Cancer,_in_V4__432X+selected$BS2+strong_benign+1x_homzygous_in_gnomAD_nonCancer,_in_v4__2X+selected;date=2024-02-15_15:08:19;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28711950	17919	T	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+supporting_pathogenic+Delimitsou_(2019,_PMID:_30851065):_Damaging_(non-functional)_in_yeast_assay._Stolarova_(2023,_PMID:_37449874):_intermediate_in_CHK2-assay_%26_damaging_in_KAP1-assay_Boonen_(2022,_PMID:_34903604):_intermediate_observed,_while_kinase_activity_toward_Kap1_was_lacking)+selected$PS4+supporting_pathogenic+gAD_v4:_53/806963_individuals_%3B_v2_non-cancer_4/134110_individuals_%3B_v3_non-cancer_12/73996_individuals_%3B_Flossies:_2/7325_European_American_(AF:0.000273)_Stolarova:_13/73048_pts_vs._5/88658_ctrls_%26_Dohrling:_3/60,466_BC_cases_vs._0/53,461_controls_+selected;date=2026-03-10_11:33:39;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32341089	17914	T	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:_0.0)+selected;date=2025-12-09_11:55:24;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32363441	17896	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr2	47800381	17890	G	C	.	.	classification=2;date=2020-05-12_00:00:00;source=heredicare
chr3	37011996	17883	CTGTT	C	.	.	classification=3;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|3|PS3+pathogenic_Strong:+_mRNA_analysis,_skipping_of_exon_8_(c._589_677),_Nolano_(2023)_Int_J_Mol_Sci_24:_PubMed:_36983044%3B_Thompson_BA,_Walters_R,_Parsons_MT,_Dumenil_T,_Drost_M,_Tiersma_Y,_Lindor_NM,_Tavtigian_SV,_de_Wind_N,_Spurdle_AB%3B_InSiGHT_Variant_Interpretation_Committee._Contribution_of_mRNA_Splicing_to_Mismatch_Repair_Gene_Sequence_Variant_Interpretation._Front_Genet._2020_Jul_27%3B11:798._doi:_10.3389/fgene.2020.00798._PMID:_32849802%3B_PMCID:_PMC7398121_-->_Supplementary_Table_3%3B_Strength?+selected;date=2024-09-10_10:59:48;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr11	108252902	17832	G	A	.	.	classification=3-;date=2022-05-17_00:00:00;source=heredicare
chr13	32362521	17777	A	G	.	.	classification=5;date=2020-10-13_00:00:00;source=heredicare
chr2	47414421	17757	A	T	.	.	classification=5;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0|5|PVS1+very_strong_pathogenic+Auclair_(2006,_PMID:_16395668)_%2B__Liu_(1994,_PMID:_8062247)_%26_International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT%3B_Accession:_SCV000107794.3):_Variant_causes_in-frame_splicing_aberration_(exon_5_skipping)_which_interrupts_know_functional_domain+selected$PP4+medium_pathogenic+40_MSI-H_tumours_(1_CRC_Viel_et_al.,_1997,_Pedroni_et_al.,_2007%3B_1_CRC_Chan_et_al.,_1999%3B_1_CRC_Curia_et_al.,_1999%3B_1_CRC_Montera_et_al.,_2000%3B_1_CRC_Caldes_et_al.,_2002,_Caldes_et_al.,_2004%3B_5_CRC_Hampel_et_al.,_2005%3B_1_CRC_Wolf_et_al.,_2005,_Bujalkova_et_al.,_2008%3B_10_CRC_Woods_et_al.,_2005,_Woods_et_al.,_2010%3B_2_CRC_Lagerstedt_Robinson_et_al.,_2007%3B_1_CRC,_MLH1_methylation_Rahner_et_al.,_2008%3B_1_CRC_Sheng_et_al.,_2008%3B_6_Arnold_et_al.,_2009,_Schofield_et_al.,_2009%3B_1_CRC_Perea_et_al.,_2011%3B_1_malignant_fibrous_histiocytoma_Brieger_et_al.,_2011%3B_1_CRC_Bonnet_et_al.,_2012%3B_1_CRC_ORCID:Soto%3B_3_CRC_%26_1_EC_ORCID:Leung_et_al%3B_1_CRC_ORCID:Genuardi),_IHC_MSH2_Absent_in_25_tumours_(1_CRC_Curia_et_al.,_1999%3B_6_(5)_Casey_et_al.,_2005,_Arnold_et_al.,_2009,_Limburg_et_al.,_2011,_Win_et_al.,_2011%3B_1_OvCa,_1_cervix_%26_1_CRC_Stormorken_et_al.,_2005,_Grindedal_et_al.,_2009,_Sjursen_et_al.,_2010%3B_10_CRC_Sjursen_et_al.,_2010%3B_1_CRC_Chong_et_al.,_2009%3B_3_CRC_Nagasaka_et_al.,_2010%3B_1_liposarcoma_-_Nilbert_et_al.,_2009)+selected;date=2026-02-10_10:28:47;scheme=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0;source=heredivar
chr17	58695182	17755	C	A	.	.	classification=3;date=2016-12-08_00:00:00;source=heredicare
chr16	68815617	17738	G	A	.	.	classification=3;date=2020-03-10_00:00:00;source=heredicare
chr2	214752454	17713	C	G	.	.	classification=1;date=2018-05-08_00:00:00;source=heredicare
chr11	108252914	17710	T	G	.	.	classification=4;date=2017-10-19_00:00:00;source=heredicare
chr16	68813494	17694	A	G	.	.	classification=3;date=2021-11-09_00:00:00;source=heredicare
chr13	32337454	17691	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43115844	17689	C	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	58692749	17684	G	A	.	.	classification=3;date=2020-02-18_00:00:00;source=heredicare
chr13	32363237	17679	G	T	.	.	classification=4;date=2020-06-24_00:00:00;source=heredicare
chr17	43074370	17676	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32339139	17675	A	C	.	.	classification=2;date=2020-11-10_00:00:00;source=heredicare
chr13	32370433	17646	G	T	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PS3+strong_pathogenic+Hu_(2024,_PMID:_38417439),_Sahu_(2025,_PMID:_39779848)_%26_Huang_(2025,_PMID:_39779857):_damaging+selected;date=2025-05-13_11:38:34;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr16	23607883	17631	G	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_PALB2_v1.0.0|3|BP1+supporting_benign+ClinGen:_Apply_to_all_missense_variants.+selected;date=2024-05-14_11:14:30;scheme=ClinGen_ACMG_PALB2_v1.0.0;source=heredivar
chr17	43067697	17628	T	C	.	.	classification=5;date=2019-07-09_00:00:00;source=heredicare
chr17	7676121	17587	G	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32338925	17583	T	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr11	108329202	17570	T	G	.	.	classification=5;date=2020-10-13_00:00:00;source=heredicare
chr17	43092968	17559	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337798	17549	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32379900	17513	A	C	.	.	classification=2;date=2021-09-23_00:00:00;source=heredicare
chr13	32356611	17488	T	G	.	.	classification=5;date=2017-06-29_00:00:00;source=heredicare
chr17	43106529	17476	A	G	.	.	classification=4;date=2015-03-06_00:00:00;source=heredicare
chr17	43099786	17467	T	C	.	.	classification=1;date=2022-09-20_00:00:00;source=heredicare
chr17	7676008	17441	A	G	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr17	43094110	17429	A	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338037	17425	A	G	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr13	32394890	17411	G	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32356624	17388	A	G	.	.	classification=1;source=heredicare
chr13	32370401	17373	G	T	.	.	classification=5;source=heredicare
chr13	32370975	17341	C	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr2	47408508	17313	G	C	.	.	classification=3;date=2023-02-14_00:00:00;source=heredicare
chr11	108335105	17299	T	C	.	.	classification=5;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|5|PS3+supporting_pathogenic+_In_vitro_functional_studies_provide_some_evidence_that_this_variant_reduces,_however_retains_some_protein_function,_which_may_produce_the_more_mild_symptoms_seen_in_patients_(Scott_2002_PMID:_11805335,_Demuth_2011_PMID:_21965147)._+selected$PM3+very_strong_pathogenic+Has_been_reported_in_>20_compound_heterozygous_individuals_with_ataxia_telangectasia_and_segregated_with_disease_in_3_affected_individuals_from_2_families._Most_of_these_cases,_however_are_atypical_and_mild_cases_of_ataxia_telangectasia_(Verhagen_2009_PMID:_19535770,_van_Os_2019_PMID:_30819809,_Schon_2019_PMID:_30549301,_Lohmann_2015_PMID:_25957637,_Fievet_2019_PMID:_31050087,_Heil_2006_PMID:_16864838,_Demuth_2011_PMID:_21965147,_Reiman_2011_PMID:_21792198).+selected$PP3+supporting_pathogenic+Revel_0,905+selected;date=2024-08-13_11:15:18;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr13	32362691	17298	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108299779	17263	A	C	.	.	classification=2;date=2020-05-12_00:00:00;source=heredicare
chr13	32363198	17259	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108227625	17236	A	G	.	.	classification=4;date=2022-07-12_00:00:00;source=heredicare
chr17	43071201	17230	G	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43063952	17228	C	T	.	.	classification=5;date=2017-10-19_00:00:00;source=heredicare
chr17	7673843	17225	C	T	.	.	classification=3;date=2018-07-10_00:00:00;source=heredicare
chr13	32363342	17180	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214728728	17177	C	T	.	.	classification=1;date=2020-12-08_00:00:00;source=heredicare
chr7	5999105	17151	T	C	.	.	classification=3;date=2022-09-20_00:00:00;source=heredicare
chr13	32329363	17144	G	A	.	.	classification=1;source=heredicare
chr17	7675088	17133	C	A	.	.	classification=4;date=2021-06-08_00:00:00;source=heredicare
chr17	43092578	17122	G	GA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108312500	17120	TA	T	.	.	classification=2;date=2021-04-13_00:00:00;source=heredicare
chr13	32344563	17116	C	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|PM2+supporting_pathogenic+Absent_from_controls_+selected$BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1).+selected;date=2024-06-10_16:52:31;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr13	32332296	17113	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58709925	17110	C	T	.	.	classification=3;date=2019-08-27_00:00:00;source=heredicare
chr13	32398495	17098	T	TA	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32362543	17092	G	A	.	.	classification=4;date=2015-10-27_00:00:00;source=heredicare
chr11	108253901	17056	T	C	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|2|BP7+supporting_benign+A_synonymous_variant_for_which_splicing_prediction_algorithms_predict_no_impact_to_the_splice_consensus_sequence_nor_the_creation_of_a_new_splice_Own_RNA-Analysis_revealed_no_effect_on_splicing+selected$BS1+strong_benign+Filtering_Allele_Frequency_>.05%_(0.0006509)+selected;date=2024-02-19_16:37:57;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr2	47790942	17047	A	T	.	.	classification=2;date=2021-02-09_00:00:00;source=heredicare
chr13	32337870	17041	C	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3+selected$BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected$BP5+supporting_benign+Combined_LR_Score_%1Y_0.33315_(as_per_ENIGMA_BRCA1/BRCA2_specs_1.1.0_Track_Hub)+selected;date=2025-07-09_12:36:06;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	7676109	17021	G	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	58709850	17017	T	A	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr13	32379467	16984	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr2	47804907	16983	C	A	.	.	classification=3;date=2019-10-08_00:00:00;source=heredicare
chr11	108289675	16979	G	T	.	.	classification=3;date=2022-06-14_00:00:00;source=heredicare
chr17	43092187	16977	TC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108235772	16968	T	G	.	.	classification=4;comment=;criteria=ACMG_standard|4|PM2+supporting_pathogenic+not_in_gnomAD_v3.1.2_(non_cancer)+selected$PM3+strong_pathogenic+Found_compound_heterozygous__in_multiple_Cases_with_AT_PMID:_36674612_(Czarny_et_al.,2023)_PMID:_25614872_(Podralska_MJ_et_al.,_2014)+selected$PP3+supporting_pathogenic+CADD:27.8_REVEL:_0.936__BayesDEL:0.334485+selected;date=2024-01-09_11:06:25;scheme=ACMG_standard;source=heredivar
chr2	214767641	16947	T	C	.	.	classification=2;comment=Additional_evidence_agains_pathogenicity_from_family/clinical_data_(see_entries_by_Myriad_and_University_of_Washington);criteria=ACMG_standard|3|BP4+supporting_benign+CADD:15.07_REVEL:_0.17__BayesDEL:-0.584707+selected$BS1+supporting_benign+gnomAD_AF_in_FE+selected;date=2024-01-17_13:22:39;scheme=ACMG_standard;source=heredivar
chr17	7674971	16945	C	G	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr7	6005969	16921	C	G	.	.	classification=2;comment=;criteria=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0|1|PP3+medium_pathogenic+MAPP/PP2_Prior_P_%1Y_0.8883_(thus_>_0.81)+selected$BS1+strong_benign+gnomAD_v4.1.0_Grpmax_Filtering_AF_%1Y_0.0003714_(%1Y_0.037%%3B_thus_≥_0.00028_and_<_0.0028_(0.028-0.28%))+selected$BS2+strong_benign+Found_in_1_homozygous_individual_(age_70_-_75)_listed_in_the_gnomAD_v2.1.1_(non-cancer)_controls_cohort+selected;date=2026-03-13_12:34:45;scheme=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0;source=heredivar
chr13	32339017	16878	T	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	68829771	16873	G	A	.	.	classification=1;date=2022-04-12_00:00:00;source=heredicare
chr17	43045674	16840	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43063874	16833	A	C	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	35101039	16830	G	A	.	.	classification=2;date=2022-04-12_00:00:00;source=heredicare
chr13	32326497	16826	A	G	.	.	classification=4M;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS4+strong_pathogenic+CanVAR_35/80722_cases,__5/257751_UK_Biobank_(females)_OR_22,36_(95%CI_8,760_to_57,08)+selected$PM2+supporting_pathogenic+not_in_gnomAD_v2/v3+selected$PM3+supporting_pathogenic+Mori_et_al._2019_(PMID:_PMID:_30792206)_-_in_FA_patient_(phase_unknown)_with_p.R2518X_(1pt)+selected$PP4+supporting_pathogenic+Combined_LR_Score_2.42977_(UCSC)+selected;date=2026-01-13_11:21:33;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32363211	16819	C	T	.	.	classification=4;date=2019-07-09_00:00:00;source=heredicare
chr13	32340456	16814	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108330233	16802	C	T	.	.	classification=5;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|5|PVS1+very_strong_pathogenic+see_ATM_PVS1_decision_tree_downstream_of_codon_2980+selected$PM2+supporting_pathogenic+gnomAD_v2.1.1_non-cancer:_0.000004227%3B_v3.1.2_not_found+selected$PM3+strong_pathogenic+The_c.7327C>T_ATM_variant_has_been_reported_in_multiple_individuals_with_Ataxia-telangiectasia_who_are_compound_heterozygous_for_a_second_ATM_pathogenic_variant_(Soukupova_2011,_Delia_2003,_Li_2000,_Sandoval_1999,_Wright_1996)._Thus,_this_variant_is_interpreted_as_pathogenic.+selected$PM5+supporting_pathogenic+Truncating_upstream_p.Arg3047_+selected;date=2024-12-10_10:14:51;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	7675157	16792	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32340413	16788	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr11	108343223	16762	T	G	.	.	classification=4;date=2016-12-08_00:00:00;source=heredicare
chr11	108235838	16713	T	C	.	.	classification=2;date=2020-03-10_00:00:00;source=heredicare
chr13	32332889	16710	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr19	1221996	16705	C	T	.	.	classification=5;date=2021-06-08_00:00:00;source=heredicare
chr10	87933035	16684	C	A	.	.	classification=3%2B;date=2021-09-14_00:00:00;source=heredicare
chr11	108353772	16676	C	T	.	.	classification=3;date=2020-08-18_00:00:00;source=heredicare
chr17	43091452	16663	CTTTGCTCTTCTTGA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32362560	16590	AT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108365356	16584	G	T	.	.	classification=5;date=2016-09-08_00:00:00;source=heredicare
chr17	35101024	16577	G	A	.	.	classification=3%2B;date=2022-06-14_00:00:00;source=heredicare
chr11	108251973	16561	T	C	.	.	classification=2;date=2018-07-10_00:00:00;source=heredicare
chr13	32394833	16556	GC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7674866	16546	G	A	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr11	108271147	16534	G	A	.	.	classification=4;date=2017-05-11_00:00:00;source=heredicare
chr17	43047679	16493	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363351	16479	G	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	61808595	16447	G	A	.	.	classification=2;date=2019-05-14_00:00:00;source=heredicare
chr2	47403195	16403	G	A	.	.	classification=2;date=2021-07-13_00:00:00;source=heredicare
chr16	23630140	16398	C	G	.	.	classification=1;date=2016-07-14_00:00:00;source=heredicare
chr13	32340915	16383	C	T	.	.	classification=2;date=2021-09-23_00:00:00;source=heredicare
chr17	43115746	16347	C	T	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr13	32332992	16325	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43095857	16312	GA	G	.	.	classification=3%2B;comment=p.Ser220LeufsTer14_Exon_10_PVS1_and_PM5_not_applicable;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PM2+supporting_pathogenic+not_in_gnomAD_v2/v3+selected;date=2024-09-10_11:57:28;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr2	47800115	16305	C	T	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr17	43094031	16295	A	C	.	.	classification=3;date=2017-03-16_00:00:00;source=heredicare
chr17	43092490	16294	A	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43082499	16289	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7675054	16285	A	G	.	.	classification=2;date=2018-07-10_00:00:00;source=heredicare
chr11	108301794	16246	CTT	C	.	.	classification=2;date=2020-10-13_00:00:00;source=heredicare
chr17	7670695	16227	G	A	.	.	classification=2;date=2021-09-23_00:00:00;source=heredicare
chr17	43124065	16216	A	C	.	.	classification=4;date=2023-03-28_00:00:00;source=heredicare
chr17	7675089	16211	G	C	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr16	23629231	16210	G	A	.	.	classification=4;date=2019-11-29_00:00:00;source=heredicare
chr13	32339690	16199	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43045703	16182	GGTA	GTT	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|4|PS3+strong_pathogenic+PMID:_37718511_LOF_for_16/17__BRCA1_extended_incorrect_terminus_variants_(EITs)+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PP1+medium_pathogenic+_große_Familie_aus_Regensburg,_Bayes_Score_14,08,_2_weitere_Familien_mit_je_2_betroffenen_Schwestern_(BRCa%2BVarainte),+selected;date=2024-08-13_11:46:14;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43091952	16180	G	GA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32354877	16170	CAA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	23607924	16166	G	C	.	.	classification=4;date=2022-04-12_00:00:00;source=heredicare
chr13	32338058	16133	C	CA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108335880	16114	A	T	.	.	classification=3;date=2019-08-27_00:00:00;source=heredicare
chr11	108353835	16105	T	C	.	.	classification=3;date=2021-10-12_00:00:00;source=heredicare
chr17	43082469	16102	G	A	.	.	classification=2;date=2021-03-09_00:00:00;source=heredicare
chr11	108251073	16096	G	T	.	.	classification=5;date=2021-09-14_00:00:00;source=heredicare
chr13	32363384	16080	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr11	108279577	16049	A	T	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|3|BS3+supporting_benign+Own_RNA-Analysis_(blood_derived_RNA)_revealed_no_effect_on_splicing+selected;date=2024-02-15_10:10:41;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr13	32339699	16042	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	61776394	16001	C	T	.	.	classification=2;date=2019-03-19_00:00:00;source=heredicare
chr17	43093883	15999	T	G	.	.	classification=1;date=2022-09-20_00:00:00;source=heredicare
chr17	7673791	15992	A	C	.	.	classification=4;date=2020-11-10_00:00:00;source=heredicare
chr17	7673821	15982	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32370992	15945	C	T	.	.	classification=4M;comment=A._Quante:_Homozygot_in_Patient_ohne_FA_Phänotyp_gefunden;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PS3+strong_pathogenic+Huang_et_al.,_2025:_P_strong+selected$PP3+supporting_pathogenic+BayesDEL:_0.371621_and_within_BRCA2_DNA_binding_aa_2481-3186.+selected;date=2025-09-09_11:34:52;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr3	37048584	15943	T	C	.	.	classification=2;date=2021-12-14_00:00:00;source=heredicare
chr17	43094795	15942	A	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43094764	15909	CTCTCAGCTGCACGCT	C	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|3|PM2+supporting_pathogenic+not_in_gnomAD_V4.0+selected$PP3+supporting_pathogenic+Apply_PP3_for_predicted_splicing_(SpliceAI_≥0.2)_for_silent,_missense/in-frame_(irrespective_of_location_in_clinically_important_functional_domain)_and_for_intronic_variants_outside_of_donor_and_acceptor_1,2_sites+selected;date=2024-04-09_10:57:20;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr2	47799457	15906	A	G	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+priors_0,1+selected$BS3+strong_benign+well-established_assay_in_human_cell_extracts_at_37degree,_team_experienced_(Drost,_2012,_HumMutat)+selected;date=2024-07-09_11:00:36;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32326143	15898	TAA	T	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PVS1+very_strong_pathogenic+ClinGen_table_4+selected$PM2+supporting_pathogenic+absent_in_v2_and_v3+selected$PM5+strong_pathogenic+ClinGen_table_4+selected;date=2025-06-10_11:06:29;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr2	214792458	15886	TAA	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43115754	15875	AGACAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214781250	15845	C	CT	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+AutoPVS1_(PVS1_decision_tree:_https://autopvs1.bgi.com/variant/hg19/2-215645981-T-TT):_PVS1_VSTRG_Loss-of-function_variants_in_BARD1_are_known_to_be_pathogenic+selected$PS4+supporting_pathogenic+Identified_in_patients_with_breast_or_ovarian_cancer_(ClinVar)_and_in_published_literature_(PMIDs:_26315354,_27878467,_32068069)%3B+selected$PM2+supporting_pathogenic+Grpmax_Filtering_AF_(gnomAD_4.1.0,_Total)%1Y_2.800e-7+selected$PM5+supporting_pathogenic+Trunkierend_Exon_4+selected;date=2024-10-08_10:36:30;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108353828	15825	A	G	.	.	classification=3-;date=2019-04-09_00:00:00;source=heredicare
chr13	32379912	15811	C	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr16	68829807	15810	C	T	.	.	classification=2;date=2021-05-11_00:00:00;source=heredicare
chr17	43091629	15779	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32340237	15769	G	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32394863	15745	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32354920	15740	TTC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32362489	15729	T	C	.	.	classification=1;source=heredicare
chr17	43047701	15726	A	ACCATGGAAGCCATTGTCCTCTGTCCAGGCATCTGGCTGCACAACCACAATTGGGTGGACAC	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr17	43093704	15722	ATTC	A	.	.	classification=3;date=2016-07-14_00:00:00;source=heredicare
chr3	37047595	15700	C	G	.	.	classification=2;date=2018-01-11_00:00:00;source=heredicare
chr13	32362680	15696	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094443	15644	TTC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32326601	15632	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43063873	15626	C	G	.	.	classification=5;source=heredicare
chr17	61808463	15622	T	C	.	.	classification=3;comment=own_RNA-Analysis_not_reliable;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+absent_from_gnomAD_v4.0+selected$PP3+supporting_pathogenic+spliceAI:_0.46+selected;date=2025-03-11_11:37:49;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43047676	15605	G	C	.	.	classification=4;date=2019-06-11_00:00:00;source=heredicare
chr11	108335907	15587	A	C	.	.	classification=3;date=2016-09-08_00:00:00;source=heredicare
chr13	32333238	15582	CAAATA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32396905	15574	A	G	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr17	61780840	15544	C	T	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+RNA-Analysis:_skipping_exon_12,_r.1629_1794del,_p.(Phe544Profs*14),_predicted_to_undergo_NMD%3B_monoallelic_expression_of_WT_product.+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected;date=2025-08-13_12:00:36;scheme=ACMG_SVI_adaptation;source=heredivar
chr10	87933252	15517	G	T	.	.	classification=4;date=2018-04-17_00:00:00;source=heredicare
chr17	43092667	15487	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32325075	15476	G	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PM2+supporting_pathogenic+absent_from_gnomAD+selected;date=2025-01-14_10:54:38;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43093348	15459	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32394717	15446	C	A	.	.	classification=4;date=2016-12-08_00:00:00;source=heredicare
chr17	43124054	15439	T	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43106490	15433	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338731	15426	A	G	.	.	classification=2;date=2021-03-09_00:00:00;source=heredicare
chr17	43074331	15421	C	T	.	.	classification=5;date=2015-05-08_00:00:00;source=heredicare
chr13	32338162	15396	T	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32380064	15374	A	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32379997	15361	T	G	.	.	classification=1;source=heredicare
chr17	43045760	15348	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43074412	15347	C	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43093222	15327	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43067543	15322	C	T	.	.	classification=1;source=heredicare
chr3	37004444	15312	C	G	.	.	classification=4;date=2019-03-19_00:00:00;source=heredicare
chr13	32336893	15227	A	C	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr11	108251060	15224	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|2|BS1+strong_benign+gnomAD_v4.1.0_Grpmax_Filtering_AF_%1Y_0.001396_(%1Y_0.14%)+selected;date=2025-04-07_20:08:13;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr11	108316029	15223	C	T	.	.	classification=2;date=2020-05-12_00:00:00;source=heredicare
chr13	32333270	15220	A	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43091638	15214	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr10	87863635	15203	C	T	.	.	classification=2;comment=;criteria=ClinGen_ACMG_PTEN_v3.1.0|2|BS1+strong_benign+grpmax_allel_Freq_0,019%_in_gnomAD_V4+selected;date=2025-11-17_19:38:01;scheme=ClinGen_ACMG_PTEN_v3.1.0;source=heredivar
chr16	23622972	15184	C	T	.	.	classification=1;date=2016-07-14_00:00:00;source=heredicare
chr11	108330332	15172	AGTG	A	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr17	58734129	15162	TAG	T	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr13	32341106	15159	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	58709855	15129	TTAG	TAT	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+As_per_Tayoun_(2018,_PMID:_30192042):_Exon_skipping_or_use_of_a_cryptic_splice_site_preserves_reading_frame_-->_Role_of_region_in_protein_function_is_unknown_-->_LoF_variants_in_this_exon_are_not_frequent_in_the_general_population_and_exon_is_present_in_biologically-relevant_transcript(s)_-->_Variant_removes_>10%_of_protein_-->_PVS1_STR+selected$PS1+medium_pathogenic+variant_c.706-2A>G_classified_as_pathogenic_with_same_spliceAI_predictions+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected;date=2025-08-12_10:54:11;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43093329	15127	TTTCTC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43074381	15107	G	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr2	47386571	15100	GATAAAGGAGATGGGTGAGATGCATAGGGAACTCAATGCATAA	G	.	.	classification=5;date=2018-04-17_00:00:00;source=heredicare
chr13	32370426	15088	G	A	.	.	classification=3;date=2016-12-08_00:00:00;source=heredicare
chr17	43093193	15087	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7670649	15073	G	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32339884	15057	A	C	.	.	classification=1;date=2018-03-20_00:00:00;source=heredicare
chr17	43124063	15040	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr19	1221988	15029	G	A	.	.	classification=3;date=2023-03-28_00:00:00;source=heredicare
chr17	43092934	15000	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32338208	14996	GAAA	G	.	.	classification=2;date=2020-08-18_00:00:00;source=heredicare
chr17	7676047	14991	C	G	.	.	classification=3;date=2021-01-12_00:00:00;source=heredicare
chr13	32356473	14971	G	A	.	.	classification=1;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|1|BP4+supporting_benign+Missense_variants_inside__(potentially)_clinically_important_functional_domain,_and_no_predicted_impact_via_protein_change_or_splicing(BayesDel_no-AF_score_≤_0.18_AND_SpliceAI_≤0.1).+selected$BP5+very_strong_benign+Combined_LR_score_0,00013_Caputo__2021_PMID_34597585+selected$BS3+strong_benign+Table_9_Richardson_2021_(PMID:33609447)_Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_benign_control_variants+selected;date=2025-12-09_11:58:16;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr3	37047529	14945	C	T	.	.	classification=2;date=2022-02-08_00:00:00;source=heredicare
chr16	23641109	14943	C	G	.	.	classification=4;date=2019-01-08_00:00:00;source=heredicare
chr13	32340810	14938	C	A	.	.	classification=1;date=2019-07-09_00:00:00;source=heredicare
chr16	23634870	14931	T	C	.	.	classification=1;date=2016-07-14_00:00:00;source=heredicare
chr13	32319275	14910	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32336641	14890	TC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43071015	14861	G	A	.	.	classification=1;source=heredicare
chr13	32316508	14852	GAC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28699929	14842	C	G	.	.	classification=3;comment=conflicting_data;criteria=ACMG_SVI_adaptation|3|;date=2025-09-09_12:15:01;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32346896	14831	G	A	.	.	classification=5;date=2021-02-09_00:00:00;source=heredicare
chr13	32362673	14818	GCTT	G	.	.	classification=3;date=2018-07-10_00:00:00;source=heredicare
chr16	23637964	14808	A	T	.	.	classification=4;date=2017-02-09_00:00:00;source=heredicare
chr13	32337134	14803	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32331044	14788	T	G	.	.	classification=1;source=heredicare
chr11	108272612	14787	G	T	.	.	classification=4;date=2022-04-12_00:00:00;source=heredicare
chr22	28694070	14782	A	T	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL_%1Y_0.098_+selected$BS3+strong_benign+functional_assays_from_Kleiblova_2019,_Stolarova_2023_suggest_no_impact_on_protein_function_(also_shown_in_yeats_assay_by_Delimitsou_2019)+selected;date=2024-09-09_16:44:24;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7676154	14774	G	C	.	.	classification=1;date=2020-09-16_00:00:00;source=heredicare
chr13	32333214	14759	TAATATCCACTTTGAAA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28694072	14753	C	T	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Kleiblova_(2019)_PMID:_31050813_-->_damaging_Stolarova_(2023)_PMID:_37449874_-->_damaging+selected$PS4+supporting_pathogenic+Dorling_et_al._(2020)_(PMID:_35585550):_in_18/60466_Cases,_in_0/53461_Controls+selected$PP3+medium_pathogenic+REVEL_(0.867)_Pathogenic_Moderate_+selected;date=2024-11-11_16:20:12;scheme=ACMG_SVI_adaptation;source=heredivar
chr3	37047639	14740	AA	GC	.	.	classification=1;date=2016-06-22_00:00:00;source=heredicare
chr11	108229328	14737	G	A	.	.	classification=5;comment=;criteria=ClinGen_ACMG_ATM_v1.5.0|5|PS1+medium_pathogenic+c.331%2B2T>G_(PMID:_17910737)_und_c.331%2B1G>A_(PMID:31921190)+selected$PM2+supporting_pathogenic+gnomAD_v4.1.0_AF_%1Y_6.220e-7+selected$PM3+very_strong_pathogenic+multiple_individuals_comp_het_/_hom_with_classic_AT_(PMID:_19535770,_22006793,_22213089,_23726790,_29288088,_31776720)+selected$PP1+supporting_pathogenic+Verhagen_et_al.,_2009:_homozygous_sibling_with_AT+selected$PP3+supporting_pathogenic+SpliceAi_Dl_%1Y_0.98_+selected;date=2026-03-13_12:31:48;scheme=ClinGen_ACMG_ATM_v1.5.0;source=heredivar
chr13	32337797	14723	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092201	14696	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58694928	14691	C	T	.	.	classification=2;date=2020-01-14_00:00:00;source=heredicare
chr13	32337313	14673	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108245026	14659	G	T	.	.	classification=5;date=2017-10-19_00:00:00;source=heredicare
chr17	43063890	14613	C	T	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr13	32326012	14607	T	C	.	.	classification=1;source=heredicare
chr17	43049194	14606	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32362522	14602	G	T	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PVS1+very_strong_pathogenic+ClinGen_Table_4+selected$PS1+medium_pathogenic+Additional_variants_with_same_splice_effect_classified_as_pathogenic+selected$PM2+supporting_pathogenic+not_in_gnomAD_v2.1.1,_v3.1.2,_v4.1+selected;date=2024-10-08_12:10:55;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr3	37020402	14592	T	C	.	.	classification=1;date=2020-11-10_00:00:00;source=heredicare
chr11	108248927	14591	T	G	.	.	classification=2;date=2022-01-18_00:00:00;source=heredicare
chr17	43099813	14582	C	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32354909	14577	T	A	.	.	classification=2;date=2017-06-29_00:00:00;source=heredicare
chr13	32354965	14576	C	A	.	.	classification=3;date=2020-05-12_00:00:00;source=heredicare
chr17	61849221	14571	A	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|BP4+supporting_benign+REVEL_%1Y_0,126_(und_damit_zwischen_(0.016,_0.183]_)+selected;date=2024-11-11_16:10:45;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43093650	14546	G	C	.	.	classification=2;date=2019-10-08_00:00:00;source=heredicare
chr17	43047643	14537	C	T	.	.	classification=4;date=2021-11-09_00:00:00;source=heredicare
chr17	43047635	14524	C	T	.	.	classification=2;date=2018-05-08_00:00:00;source=heredicare
chr17	43082434	14523	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32362595	14515	G	C	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:29988080,_29884841,_32444794)+selected$PM3+medium_pathogenic+Kopic_et_al._2011,_PMID:_21138478_%26_Wagner_et_al._2004,_PMID:_15070707_(3pt)+selected$PP3+supporting_pathogenic+BayesDel_no_AF:_0,48+selected$PP4+strong_pathogenic+Combined_LR_Score_(USCS):_48.97788+selected$BS4+strong_benign+Reduced_Penetrance???+selected;date=2024-11-11_10:38:46;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43074590	14487	C	G	.	.	classification=1;source=heredicare
chr11	108345870	14478	G	C	.	.	classification=4;date=2019-01-23_00:00:00;source=heredicare
chr17	43082542	14477	GC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092241	14476	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108307975	14467	G	C	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|3|;date=2026-02-10_10:41:14;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr13	32339137	14449	G	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr3	37047607	14443	T	A	.	.	classification=2;date=2021-06-08_00:00:00;source=heredicare
chr2	47803416	14391	A	G	.	.	classification=3;date=2023-03-28_00:00:00;source=heredicare
chr16	23621357	14390	C	G	.	.	classification=4;date=2017-10-19_00:00:00;source=heredicare
chr13	32363370	14378	A	G	.	.	classification=5;date=2016-06-22_00:00:00;source=heredicare
chr22	28695752	14376	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL_0.14+selected$BS1+strong_benign+laut_Canvig_-_%1Y>_ATM-VCEP:_FAF_>_0,5%%3B_South_asians:_0,16%_in_gnomAD_V2_und_V4,_0,1%_in_gnomAD_V3+selected;date=2024-08-13_12:30:27;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32340435	14357	G	GA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094381	14353	CAT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108284405	14330	G	A	.	.	classification=2;date=2020-02-18_00:00:00;source=heredicare
chr13	32332909	14329	TAC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337110	14328	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32354842	14322	T	A	.	.	classification=1;source=heredicare
chr22	28725030	14311	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|BS3+strong_benign+Kleibova_und_Stolarova:_functional,_(Delimitsou_2019:_intermed%3B_Sodha_2006:_fully_activated_but_reduced_expression_levels_and_less_stable)+selected;date=2024-05-13_16:05:23;scheme=ACMG_SVI_adaptation;source=heredivar
chr10	87965338	14305	A	G	.	.	classification=2;comment=;criteria=ClinGen_ACMG_PTEN_v3.1.0|2|PP2+supporting_pathogenic+Supporting_Missense_variant_in_a_gene_that_has_a_low_rate_of_benign_missense_variation_and_where_missense_variants_are_a_common_mechanism_of_disease.+selected$BP4+supporting_benign+REVEL_Score_0,441+selected$BS1+supporting_benign+BS1_P:_To_be_applied_for_variants_with_filtering_allele_frequency_of_0.0000043_up_to_0.000043_(0.00043%_up_to_0.0043%)_in_gnomAD._Popmax_FAF_of_this_variant%1Y0.00001171.+selected;date=2024-07-08_15:25:08;scheme=ClinGen_ACMG_PTEN_v3.1.0;source=heredivar
chr17	7673728	14287	C	T	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr11	108331449	14281	C	T	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|2|BP4+supporting_benign+SpliceAI_0,15%3B_RNA:_multiple_in_silico_predictors_agree_to_a_lack_of_splice_defect.+selected$BP7+supporting_benign+Use_for_synonymous_and_deep_intronic_variants_defined_as_further_than_(but_not_including)_%2B7_and_further_than(but_not_including)_-40_at_donor_and_acceptor_sites,_respectively_May_also_apply_BP4_to_achieve_Likely_Benign+selected;date=2024-06-11_10:46:09;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr17	43092200	14280	GCTT	G	.	.	classification=2;date=2021-10-12_00:00:00;source=heredicare
chr22	28687968	14268	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+supporting_pathogenic+Conflicting:_Stolarova_et_al._(2023,_PMID:_37449874)_damaging:_variant_does_not_localize_into_the_nucleus_Delimitsou_et_al._(2019,_PMID:_30851065):_benign_in_functional_yeast_assay._Boonen_et_al._(2022,_PMID:_34903604):_Intermediate_to_impaired_kinase_activity_in_vitro+selected$PS4+supporting_pathogenic+Dorling:_OR_2,48%3B_Momozawa_2018:_OR_3,0+selected$BP4+supporting_benign+REVEL_%1Y_0.205_(thus_(0.183,_0.290],_as_per_Pejaver_et_al._(2022,_PMID:_36413997))+selected;date=2024-12-10_11:37:09;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43049116	14265	C	G	.	.	classification=5;date=2022-02-08_00:00:00;source=heredicare
chr11	108325298	14251	C	A	.	.	classification=4;date=2022-07-12_00:00:00;source=heredicare
chr17	43092967	14236	T	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr2	47783292	14219	C	T	.	.	classification=2;date=2020-03-10_00:00:00;source=heredicare
chr17	43091840	14218	A	G	.	.	classification=2;date=2021-10-12_00:00:00;source=heredicare
chr16	23635273	14188	C	T	.	.	classification=2;comment=;criteria=ClinGen_ACMG_PALB2_v1.0.0|2|BP1+supporting_benign+Missense_variant_in_a_gene_for_which_primarily_truncating_variants_are_known_to_cause_disease.+selected$BS1+strong_benign+GnomAD_Filtering_Allele_Frequency_greater_than_expected_for_disease_>.01%._gnomAD_v2.1.1:_0x_homo,_57x_het,_MAF_0,02%+selected;date=2024-04-09_10:48:49;scheme=ClinGen_ACMG_PALB2_v1.0.0;source=heredivar
chr17	43067658	14181	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr11	108353881	14175	G	A	.	.	classification=5;date=2018-03-20_00:00:00;source=heredicare
chr13	32337405	14163	TC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32326617	14162	A	G	.	.	classification=4;date=2017-10-19_00:00:00;source=heredicare
chr17	7675071	14132	G	A	.	.	classification=4;date=2023-02-14_00:00:00;source=heredicare
chr13	32398209	14115	TTGTA	T	.	.	classification=4M;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PVS1+very_strong_pathogenic+As_per_VCEP_Table_4_-_Annotated_Exons_(PTC<p.T3310)_-->_PVS1_VSTR_%26_PM5_PTC_S+selected$PS3+strong_pathogenic+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(Biswas_(2020),_PMID:_33293522)+selected$PM3+medium_pathogenic+This_variant_has_been_detected_in_1_individual_with_phenotype_consistent_with_BRCA2-Fanconi_Anemia_(FA)._At_least_one_clinical_feature_of_FA_(physical_features,_pathology_findings_and_cancer_diagnosis_<%1Y5yr)_and_confirmed_chromosome_breakage,_is_seen_in_this_individual._The_individual_was_compound_heterozygous_for_the_variant_and_a_pathogenic_or_likely_pathogenic_variant_confirmed_to_be_in_trans._BRCA2:c.9699_9702del_has_also_been_detected_in_multiple_individuals_with_phenotypic_features_consistent_with_FA_but_who_did_not_meet_our_criteria_for_applying_PM3._Total_points_equated_to_2_(PM3_met%3B_Ambry_and_Invitae_internal_contributors,_Rosenthal_(2015,_PMID:_25639900))+selected$PM5+strong_pathogenic+As_per_VCEP_Table_4_-_Annotated_Exons_(PTC<p.T3310)_-->_PVS1_VSTR_%26_PM5_PTC_S+selected$BP5+very_strong_benign+Multifactorial_likelihood_ratio_analysis_using_clinically_calibrated_data_produced_a_combined_LR_for_this_variant_of_7.08E-23_(based_on_Family_History_LR%1Y7.08E-23),_below_the_thresholds_for_Very_strong_benign_evidence_(LR_<0.00285)_(BP5_Very_strong_met%3B_Ambry_internal_contributor).+selected$BS1+strong_benign+The_highest_non-cancer,_non-founder_population_filter_allele_frequency_in_gnomAD_v2.1_(exomes_only,_non-cancer_subset,_read_depth_>%1Y20)_or_gnomAD_v3.1_(non-cancer_subset,_read_depth_>%1Y20)_is_0.0002484_in_the_Latino/Admixed_American_population,_which_is_above_the_ENIGMA_BRCA1/2_VCEP_threshold_(>0.0001)_for_BS1,_and_below_the_BA1_threshold_(>0.001)_(BS1_met)+selected;date=2025-08-12_16:07:32;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43115730	14086	A	T	.	.	classification=5;source=heredicare
chr17	61743063	14084	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+medium_pathogenic+Moyer_et_al._damaging_/reduced_protein_stability_(number_of_controls_to_low_for_strong)+selected$PM2+supporting_pathogenic+gnomAD_v.3.1.2_(non-cancer):_0_+selected$PP3+medium_pathogenic+laut_Pejaver:_PP3-mod+selected;date=2024-10-08_12:16:45;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32357559	14083	A	G	.	.	classification=1;source=heredicare
chr16	68828254	14063	C	T	.	.	classification=3;comment=ClinGen_CDH1_Variant_Curation_Expert_Panel;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+≤_1_out_of_100,000_alleles_in_gnomAD_cohort%3B_if_present_in_≥2_individuals_within_a_subpopulation,_must_be_present_in_≤_One_out_of_50,000_alleles._gnomAD_v4.1_South_Asian_2_in_91076_alleles+selected;date=2025-12-09_12:03:04;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	61847144	14051	A	G	.	.	classification=2;date=2019-06-11_00:00:00;source=heredicare
chr17	43104083	14043	AAAG	A	.	.	classification=1;source=heredicare
chr16	23641140	14031	C	A	.	.	classification=5;date=2018-01-11_00:00:00;source=heredicare
chr16	68829795	14019	GAAGT	G	.	.	classification=4;date=2019-01-08_00:00:00;source=heredicare
chr2	214767517	14014	C	T	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+SpliceAI:_no_effect_on_splicing+selected$BP7+supporting_benign+synonymous_variant_for_which_splicing_prediction_algorithms_predict_no_impact_to_the_splice_consensus_sequence_nor_the_creation_of_a_new_splice_site_AND_the_nucleotide_is_not_highly_conserved_.+selected;date=2025-01-14_10:29:40;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32357781	14003	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43047702	13989	C	T	.	.	classification=3;date=2021-02-09_00:00:00;source=heredicare
chr13	32362596	13985	A	T	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:29988080,_33609447,_32444794)_(PS3_met).+selected$PM2+supporting_pathogenic+absent_in_gnomAD_v2.1_and_v3.1+selected$PP4+very_strong_pathogenic+_Multifactorial_likelihood_ratio_analysis_using_clinically_calibrated_data_produced_a_combined_LR_for_this_variant_of_406_(based_on_Cosegregation_LR%1Y1.88%3B_Co-occurrence_LR%1Y1.28%3B_Family_History_LR%1Y168.6),_above_the_threshold_for_Very_strong_evidence_towards_pathogenicity_(LR_>350)_(PP4_Very_strong_met%3B_PMID:_17924331,_31853058).+selected;date=2024-10-08_11:48:46;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43094131	13982	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|PM2+supporting_pathogenic+absent_from_gnomAD+selected$BP1+strong_benign+missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected;date=2024-05-02_16:43:04;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr17	43092175	13977	GTC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35119611	13962	C	CA	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Start_loss_variant_in_RAD51D_alternative_start_codon_at_position_16._But_many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PS1+medium_pathogenic+Many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PM2+supporting_pathogenic+Absent/rare_in_gnomAD_V3_and_V4+selected;date=2026-02-21_13:55:17;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	47416398	13956	C	G	.	.	classification=1;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0|1|PP3+medium_pathogenic+prior_Propability:_0,87:_mod+selected$BS1+strong_benign+GnomAD_v4_Grpmax_filtering_allele_frequency_%1Y_0.0002341_(thus,_≥_0.0001_and_<_0.001_(0.01-0.1%))+selected$BS3+strong_benign+PMID:_33357406_/_Jia_et._al_(2021):_LOF_Score_of_-2.77_in_functional_assay.+selected;date=2024-09-10_10:39:07;scheme=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0;source=heredivar
chr13	32355114	13944	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43106456	13931	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43051131	13927	G	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	35101236	13870	G	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL_benign_strong_0.083,_BayesDel_noAF_benign_moderate_-0.4677_SpliceAI:_0.01+selected$BS1+supporting_benign+laut_Canvig:_BS1_ab_0.0000583_(0.00583%),_gnomAD_V2,_cancer_free_females%3B_wir_haben_total:_7/107672_%1Y>_0,0065%%3B_Latinos:_3/20086_%1Y>_0,015%%3B_Africans:_2/9224_%1Y>_0,022%%3B_https://canvaruk.org/result/RAD51D/c.868C%3ET(p.Arg290Trp)%23ControlF+selected;date=2024-08-13_11:38:56;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43063881	13852	G	C	.	.	classification=4;date=2016-01-14_00:00:00;source=heredicare
chr2	47806285	13834	C	G	.	.	classification=4;date=2019-05-14_00:00:00;source=heredicare
chr2	47800274	13833	C	A	.	.	classification=3;date=2022-04-12_00:00:00;source=heredicare
chr22	28695794	13812	G	A	.	.	classification=4;comment=;criteria=ACMG_standard|4|PS3+strong_pathogenic+Delimitsou_(2019):_damaging_in_yeast_assay_Stolarova_(2023):_damaging_in_CHK2_%26_KAP1_assay_Boonen_(2022):_damaing_in_KAP1_assay_+selected$PS4+supporting_pathogenic+OR_in_Stolarova_et_al._2.5_but_not_significant_(p%1Y0.07)_and_CI_intervall_including_1.0%3B_18_Families_in_GC-HBOC_only_1X_in_gnomAD_V3.1.2_non_Cancer+selected$PP3+supporting_pathogenic+REVEL:_0.825_[cutoff_REVEL_>0.7333]+selected;date=2024-01-09_12:43:08;scheme=ACMG_standard;source=heredivar
chr17	43104914	13808	CTCT	C	.	.	classification=3;date=2021-04-13_00:00:00;source=heredicare
chr13	32340651	13806	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108365152	13798	C	T	.	.	classification=3;date=2022-11-08_00:00:00;source=heredicare
chr3	37048555	13791	C	G	.	.	classification=3;date=2021-12-14_00:00:00;source=heredicare
chr17	43094854	13787	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43091642	13786	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43099930	13741	CT	C	.	.	classification=1;source=heredicare
chr2	47408463	13725	C	G	.	.	classification=1;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0|1|BS1+strong_benign+Total_GnomAD_v4_Grpmax_filtering_allele_frequency_%1Y_0.0001629_(%1Y0.016%,_thus_>_0.01%_and_<_0.1%_)+selected$BS3+strong_benign+Jia_2021_(PMID:_33357406%3B_Calibrated_functional_assay):_LOF_score_%1Y_-4.07_(thus_<_0)+selected;date=2025-11-17_20:12:58;scheme=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0;source=heredivar
chr13	32394858	13720	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	58709937	13715	T	G	.	.	classification=3;date=2020-12-08_00:00:00;source=heredicare
chr17	7675077	13694	G	T	.	.	classification=4;date=2020-12-08_00:00:00;source=heredicare
chr13	32379388	13675	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32371035	13672	A	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr11	108330270	13656	T	A	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr13	32319221	13653	A	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	23635199	13628	T	C	.	.	classification=2;date=2017-10-19_00:00:00;source=heredicare
chr17	43094397	13621	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	23629946	13604	G	T	.	.	classification=2;comment=in_addition_BP7_applicable;criteria=ClinGen_ACMG_PALB2_v1.1.0|3|BP4+supporting_benign+Splice_AI_<_0.1+selected;date=2025-05-13_11:45:25;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr17	58709988	13603	G	C	.	.	classification=3%2B;comment=;criteria=ACMG_SVI_adaptation|3|PS3+strong_pathogenic+Olvera-León_et_al.,_Cell_2024_-_c.835G>C_is_classified_as_a_fast-depleted_variant_by_SGE_(saturation_genome_editing)_Hu_et_al,_Cancer_Research_2023_-_deleterious_(located_in_the_Walker_B_motif_at_residues_237_and_242,_which_is_also_predicted_to_contribute_to_ATP_binding)+selected;date=2025-08-12_11:11:33;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43070950	13599	G	A	.	.	classification=4;date=2016-09-08_00:00:00;source=heredicare
chr13	32332803	13588	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32326142	13582	A	C	.	.	classification=2;date=2023-01-10_00:00:00;source=heredicare
chr2	47403192	13570	A	C	.	.	classification=3;date=2020-03-10_00:00:00;source=heredicare
chr13	32398747	13564	A	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43124020	13562	A	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	43092235	13545	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43091438	13525	A	C	.	.	classification=4;date=2017-02-15_00:00:00;source=heredicare
chr13	32340011	13509	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32316528	13501	G	A	.	.	classification=5;date=2021-02-09_00:00:00;source=heredicare
chr17	43092798	13478	T	C	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr3	37025734	13467	A	G	.	.	classification=2;date=2020-11-10_00:00:00;source=heredicare
chr2	47806614	13410	G	GA	.	.	classification=4;date=2017-10-19_00:00:00;source=heredicare
chr17	43057116	13401	C	A	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	7673770	13389	T	G	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr2	47805624	13354	G	A	.	.	classification=4;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0|4|PS3+pathogenic_Strong:+Drost_(202,_PMID:31965077):_Odds_path._%1Y_42.358_(thus_functional_odds_for_Pathogenicity_>_18.7)%3B_CIMRA_(complete_in_vitro_MMR_activity)_Assay_%1Y_7.2%+selected$PM2+supporting_pathogenic+extremely_rare_(<1_in_50,000_alleles,_1x_NFE)_in_gnomAD_v4_dataset+selected$PP3+supporting_pathogenic+Missense_variant_with_HCI_prior_probability_for_pathogenicity_%1Y_0.74_(thus_>_0.68_%26_<%1Y0.81)+selected;date=2025-07-09_12:29:37;scheme=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0;source=heredivar
chr7	6004042	13344	G	C	.	.	classification=2;date=2021-09-14_00:00:00;source=heredicare
chr13	32370530	13342	A	C	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr13	32355095	13340	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32346842	13333	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43093844	13330	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108326110	13319	G	C	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|2|BP2+supporting_benign+GnomAD_v4.1.0__1x_homozygous_(age_unknown)+selected$BP4+supporting_benign+REVEL:_0.077%3B_spliceAI:_0.0_+selected$BS3+medium_benign+Scott_2022:_normal_kinase_activity_(Fig.2),_rescue_radiosensitivity_(_Tbl._2_%3BSupFig6)+selected;date=2025-04-07_20:10:29;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	43094214	13299	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43063399	13296	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|PM2+supporting_pathogenic+not_in_gnomAD_v2/v3_non-cancer+selected$PP3+supporting_pathogenic+SpliceAI_Donor_0,26_und_Acc_loss_0,23+selected$BS2+supporting_benign+Homozygous_Iranian_case_(from_consanguineous_family)_with_normal_phenotype_in_adulthood_(age_34),_no_cancer_and_normal_chromosome_breakage_in_lymphocytes.+selected$BS3+strong_benign+This_nucleotide_substitution_is_functional_in_a_high_throughput_genome_editing_haploid_cell_survival_assay_that_can_measure_both_protein_and_RNA_effects_(Findlay_GM_et_al._Nature,_2018_10%3B562:217-222). in_Table_9_VCEP_BS3+selected;date=2026-02-10_11:45:26;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43094279	13286	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363240	13281	GAC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35106987	13273	C	T	.	.	classification=4;date=2017-10-19_00:00:00;source=heredicare
chr13	32329402	13266	C	A	.	.	classification=1;source=heredicare
chr13	32315411	13263	C	T	.	.	classification=2;date=2023-01-10_00:00:00;source=heredicare
chr17	43049170	13255	A	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr13	32337778	13248	A	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	68801720	13233	G	A	.	.	classification=2;comment=;criteria=ACMG_gene_specific:_CDH1|3|BS2+strong_benign+ClinGen_CDH1_Variant_Curation_Expert_Panel:_>300_probands/families_not_meeting_HDGC_criteria+selected;date=2024-02-15_10:29:01;scheme=ACMG_gene_specific:_CDH1;source=heredivar
chr13	32357794	13228	CAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43099795	13227	G	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43091434	13213	C	G	.	.	classification=3;date=2020-12-08_00:00:00;source=heredicare
chr13	32337923	13207	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32396938	13206	T	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43049144	13204	G	T	.	.	classification=2;date=2022-05-17_00:00:00;source=heredicare
chr11	108272591	13190	T	C	.	.	classification=5;date=2023-01-10_00:00:00;source=heredicare
chr17	7670670	13181	C	T	.	.	classification=4;date=2023-01-10_00:00:00;source=heredicare
chr13	32394812	13168	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093448	13137	C	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43082585	13129	C	T	.	.	classification=2;date=2019-03-19_00:00:00;source=heredicare
chr17	43093369	13125	A	AC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47803473	13122	C	T	.	.	classification=4M;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0|5|PM3+very_strong_pathogenic+Several_case_reports_in_the_literature_noted_for_application_of_PM3:__•_PMID:_15483016/16418736:_Compound_het_%2B_truncating_MSH6_variant_(confirmed_phase),_patient_with_early_onset_of_HNPCC-associated_cancers_%26_café-au-lait_spots_(CALS)_•_PMID:_16525781:_proband_of_HNPCC_family,_compound_het_(proven_by_familial_testing)_for_MSH6_nonsense._Presented_with_colorectal_cancer_and_with_multiple_adenomas_at_the_age_of_18_also_CALS_reported.__•_PMID:_18409202:_Compound_het_(confirmed_by_allele-specific_PCR)_with_frameshifting_MSH6_variant._Four_synchronous_colorectal_cancers_at_age_17_years,_vitiligo_and_systemic_lupus_erythematosus._MSI_%26_LOE_MSH6_on_tumour.__•_PMID:_21039432_Two_sisters,_NF1-associated_features,_biallelic_for_frameshift._Parental_testing_confirmed_phase.__•_PMID:_33422121._Homozygous._MSS_on_two_blocks,_variable_MSH6_expression._CRC_at_32,_multiple_CALS_and_neurofibromas_with_unknown_age_of_occurrence._Diagnosed_with_‘late-onset_CMMRD’.__4x_compound_heterozygous_cases_(4_points)_%2B_1x_homozygous_case_(0.5_points)_%1Y_4.5_phenotype_points_%1Y_PM3_vstr+selected$PM5+supporting_pathogenic+MSH6:c.3227G>A_p.(Arg1076His):_LP_(PM2_SUP,_PP3,_PP4_STR)_%2B_c.3226C>G_p.(Arg1076Gly):_LP_(PM2_SUP,_PP3_MOD,_PP4_STR)+selected$PP3+supporting_pathogenic+Protein-level_information_⇒_High_probability_of_pathogenicity_____from_damage_to_the_protein_sequence_:__0.81+selected$PP4+medium_pathogenic+-_PMID:_21056691:_CRC_male_at_46_years,_loss_of_MSH6_expression_-->_1P_-_PMID:_30521064:_CRC_male_at_66_years,_loss_of_MSH6_expression_-->_1P+selected;date=2025-11-18_11:42:54;scheme=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0;source=heredivar
chr17	58732547	13112	CAGT	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+PVS1_RNA:_Sanoguera-Miralles_(2020,_PMID:_33333735):_Δ(E8):_79.5%_±_1.4%_(out-of-frame_%1Y_r.966_1026del_p.(Arg322Serfs*22))_%2B_Δ(E8q18):13.8%_±_0.7%_(in_frame)%3B_onsense-mediated_decay_is_not_expected_to_result_from_this_variant,_but_it_disrupts_the_C-terminus_of_the_RAD51C_protein,_which_leads_to_a_removal_of_the_nuclear_localization_signal_that_can_cause_cellular_mislocalization_(French_2003,_PMID:_12966089)+selected$PS4+medium_pathogenic+This_variant_has_been_reported_in_four_individuals_affected_with_ovarian_cancer_(PMID:_24139550,_26057125,_31882575,_32957588),_at_least_five_individuals_affected_with_breast_cancer_(PMID:_22538716,_27616075,_29255180,_30086788,_30257646,_32854451),_as_well_as_one_individual_with_renal_cell_carcinoma_(PMID:_29978187)+selected;date=2025-08-12_11:16:02;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43063307	13096	G	A	.	.	classification=1;source=heredicare
chr13	32329559	13038	A	C	.	.	classification=1;source=heredicare
chr17	7676056	13021	C	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32340000	13020	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32357757	13010	G	A	.	.	classification=2;date=2018-07-10_00:00:00;source=heredicare
chr16	23623083	13003	A	G	.	.	classification=4;date=2022-12-06_00:00:00;source=heredicare
chr11	108289105	12996	T	C	.	.	classification=5;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|5|PVS1+very_strong_pathogenic+as_per_VCEP_Specifications_ATM_PVS1_decision_tree+selected$PM2+supporting_pathogenic+not_in_gnomAD_v4+selected$PM3+supporting_pathogenic+described_in_AT_patients_PMID:_38917355+selected;date=2025-02-18_14:47:51;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr11	108295062	12982	G	A	.	.	classification=2;date=2018-11-30_00:00:00;source=heredicare
chr17	7674253	12971	A	G	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr13	32339554	12957	C	T	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr17	43124745	12955	GTTTTTTGTTT	G	.	.	classification=3;date=2017-03-16_00:00:00;source=heredicare
chr17	43063379	12951	G	T	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr17	61780259	12942	A	T	.	.	classification=3;date=2021-10-12_00:00:00;source=heredicare
chr2	47798643	12938	A	C	.	.	classification=2;date=2021-07-13_00:00:00;source=heredicare
chr13	32332863	12928	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43091440	12882	TTTGAATCCATGCTTTGC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32356550	12881	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7670699	12839	C	T	.	.	classification=5M;comment=Known_Brazilian_founder_Mutation_with_reduced_penetrance_for_LFS._The_p.Arg337His_variant_in_TP53_has_been_reported_in_numerous_individuals_with_Li-Fraumeni_syndrome_and_is_thought_to_be_a_founder_allele_in_Southern_Brazil_(Achatz_2016,_Andrade_2016,_Borges_2016)._Although_cancers_associated_with_this_allele_tend_to_occur_at_a_later_age_compared_to_other_pathogenic_variants_in_TP53,_the_lifetime_risk_seems_to_be_similar_to_other_LFS-associated_TP53_variants_(Garritano_2010)__It_has_been_detected_at_high_frequency_in_Brazilian_LFS_families_and_is_highly_associated_with_a_common_haplotype,_providing_strong_evidence_of_a_founder_effect_in_this_population_(Garritano_et_al._Hum_Mutat._2010_Feb%3B31(2):143-50)._Ribeiro_and_colleagues_described_p.R337H_as_a_low-penetrance_mutation,_primarily_associated_with_adrenal_cortical_tumor_risk_in_childhood%3B_another_study_identified_this_mutation_at_a_high_(12.1%)_frequency_in_Brazilian_women_with_early-onset_breast_cancer_(Ribeiro_RC_et_al._Proc_Natl_Acad_Sci_U_S_A._2001_Jul_31%3B98(16):9330-5%3B_Giacomazzi_J_et_al,_PLoS_ONE_2014_%3B_9(6):e99893)._Other_studies_have_led_authors_to_conclude_that_the_lifetime_cancer_risks_for_carriers_of_this_mutation_are_similar_to_those_of_other_LFS_families,_although_p.R337H-associated_cancers_tend_to_occur_with_a_later_age_of_onset_(Garritano_et_al._Hum_Mutat._2010_Feb%3B31(2):143-50)._Families_with_this_mutation_have_been_reported_with_a_wide_spectrum_of_tumors_including,_but_not_limited_to,_breast_cancers,_brain_cancers,_soft_tissue_sarcomas,_and_adrenocortical_carcinoma_(Achatz_et_al._Cancer_Lett._2007_Jan_8%3B245(1-2):96-102%3B_Borges_LM_and_Avres_FM._Genet_Mol_Res._2015_Dec_16%3B14(4):17034-43%3B;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|;date=2025-08-12_16:24:11;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43094523	12828	TGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43104239	12808	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32336874	12805	T	G	.	.	classification=3-;date=2017-03-16_00:00:00;source=heredicare
chr11	108272711	12797	T	A	.	.	classification=2;date=2020-11-10_00:00:00;source=heredicare
chr11	108304774	12788	G	A	.	.	classification=2;date=2022-09-20_00:00:00;source=heredicare
chr13	32363549	12786	C	G	.	.	classification=2;date=2017-03-16_00:00:00;source=heredicare
chr17	43091492	12785	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7675139	12775	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32333045	12773	C	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr11	108249096	12769	T	C	.	.	classification=2;date=2016-12-08_00:00:00;source=heredicare
chr13	32326282	12741	G	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108345818	12676	C	T	.	.	classification=5;date=2018-03-20_00:00:00;source=heredicare
chr17	43092935	12658	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32316527	12652	G	T	.	.	classification=4;date=2021-06-08_00:00:00;source=heredicare
chr13	32338496	12622	AAAG	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr16	23607908	12618	G	C	.	.	classification=3;date=2022-05-17_00:00:00;source=heredicare
chr17	43063365	12592	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43074256	12585	T	C	.	.	classification=1;source=heredicare
chr17	43091818	12572	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr2	47800519	12548	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+absent_from_gnomAD+selected$PP3+supporting_pathogenic+REVEL-Score_0.84_(pathogenic_moderate)+selected;date=2024-05-03_10:21:06;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108257477	12543	A	G	.	.	classification=5;date=2016-06-22_00:00:00;source=heredicare
chr17	43099854	12512	G	C	.	.	classification=2;date=2018-05-08_00:00:00;source=heredicare
chr13	32340107	12510	C	T	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr10	87864547	12485	C	T	.	.	classification=1;date=2018-05-08_00:00:00;source=heredicare
chr17	43106487	12478	A	C	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PS3+strong_pathogenic+Findlay_2018__LOF,_Bouwman_2020_Deleterious_+selected$PS4+strong_pathogenic+Dorling_2021:_34/60466_cases_0/53461_controls_%3B_34_in_60466_case_genotypes_vs_1_in_53461_control_genotypes_gives_an_odds_ratio_of_30.08_(95%CI%1Y4.12-219.73)_PS4_Calculator+selected$PP3+supporting_pathogenic+BayesDel_noAF_%1Y_0.565+selected$PP4+very_strong_pathogenic+Combined_LR_Score__5.51712e%2B22_(Lindor_2012)+selected;date=2024-11-11_16:00:22;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32337238	12475	G	A	.	.	classification=1;date=2018-08-28_00:00:00;source=heredicare
chr17	43095848	12472	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43093216	12470	A	G	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr2	47429940	12449	A	G	.	.	classification=3;date=2018-10-09_00:00:00;source=heredicare
chr17	7673803	12438	G	T	.	.	classification=5;date=2021-09-23_00:00:00;source=heredicare
chr13	32340645	12435	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32379768	12433	GTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC	G	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS4+strong_pathogenic+Rath_et_al._2012,_PMID:_22228431_5_in_916_case_genotypes_vs_0_in_2652_control_genotypes_gives_an_odds_ratio_of_14.55_(95%CI%1Y1.7-124.7)_Identified_in_35_families_from_GC-HBOC+selected$PM2+supporting_pathogenic+absent_from_gnomAD_4.1.0_SVs/CNVs_/_dgv_gold_standard_+selected$PP3+supporting_pathogenic+in-frame_deletion_inside_a_clinically_important_functional_domain_and_predicted_impact_via_protein_change+selected$PP4+medium_pathogenic+Combined_LR_Score_16,78_PMID:_31131967+selected;date=2025-11-18_11:33:46;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32338416	12416	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32326122	12371	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108321402	12332	T	C	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.4.0|2|BS3+medium_benign+Kinase_Assay_neutral_(PMID:_40105422)+selected;date=2025-12-09_11:47:45;scheme=ClinGen_ACMG_ATM_v1.4.0;source=heredivar
chr11	108293327	12326	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|2|BP4+supporting_benign+Protein:_REVEL_<.249%3B_RNA:_multiple_in_silico_predictors_agree_to_a_lack_of_splice_defect._(SpliceAI_<_0,1+selected$BP7+supporting_benign+A_synonymous_variant_for_which_splicing_prediction_algorithms_predict_no_impact_to_the_splice_consensus_sequence_nor_the_creation_of_a_new_splice_site_AND_the_nucleotide_is_not_highly_conserved.+selected;date=2024-07-09_11:08:38;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr13	32337751	12316	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43091906	12306	A	AT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43091620	12294	TC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32394576	12291	T	G	.	.	classification=1;source=heredicare
chr17	35103328	12248	C	A	.	.	classification=2;date=2021-09-23_00:00:00;source=heredicare
chr17	43094490	12203	CAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58695189	12181	G	C	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+Welche_Stärke?+selected$PM2+supporting_pathogenic+not_in_gnomAD_v2.1.1._und_gnomAD_v3.1.2.+selected$PM5+supporting_pathogenic+CanVig:_PM5_may_be_applied_at_supporting_level_for_truncating_variants_if_nonsense_mediated_decay_(NMD)_is_predicted_(RAD51C:_NMD_predicted_if_the_variant_is_5’_of_p.Leu326)+selected;date=2024-07-09_11:50:32;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32337566	12180	C	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr22	28696905	12144	A	G	.	.	classification=3;date=2023-01-10_00:00:00;source=heredicare
chr13	32332473	12127	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092145	12119	A	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	23607918	12118	G	A	.	.	classification=3;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|3|BP1+supporting_benign+Based_on_published_and_unpublished_functional_studies,_PALB2_has_a_low_rate_of_missense_variants_that_are_non-functional_in_relevant_assays._True_missense_pathogenic_variants_are_not_yet_confirmed_or_refuted_but_are_thought_to_be_exceedingly_rare._Given_the_very_low_likelihood_that_missense_variants_are_pathogenic,_this_rule_applies_to_all_missense_variants_in_PALB2.+selected;date=2024-11-11_10:55:58;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr13	32362698	12073	G	C	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr17	43092042	12071	AGTAT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28687932	12066	T	C	.	.	classification=1;comment=;criteria=ACMG_standard|1|BP4+supporting_benign+REVEL:_0.073+selected$BS1+strong_benign+popmax:EAS_popmax_AF:0.00345888+selected$BS3+strong_benign+Delimitsou_(2019):_benign_in_yeast,__Stolarova_(2023):_benign_in_both_assays_in_human_cells+selected;date=2024-01-09_12:33:13;scheme=ACMG_standard;source=heredivar
chr13	32332449	12052	G	C	.	.	classification=1;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.2.0|1|BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected$BS3+strong_benign+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_benign_control_variants_(PMID:32444794)_(BS3_met).+selected;date=2026-03-13_11:59:52;scheme=ClinGen_ENIGMA_BRCA2_v1.2.0;source=heredivar
chr13	32354870	12049	G	C	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr13	32356610	12042	G	A	.	.	classification=5;date=2023-03-28_00:00:00;source=heredicare
chr17	43067660	12035	G	A	.	.	classification=2;date=2021-06-08_00:00:00;source=heredicare
chr13	32344474	12028	C	T	.	.	classification=1;source=heredicare
chr17	43093745	12010	G	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32325185	11990	G	A	.	.	classification=3;comment=Table_4:_PTC_NMD_Δ(E4)_predicted._In-frame_Δ(E4,5)_expected_(c.425G>T_data)_and_suspected_functional_PVS1_NA;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PP3+supporting_pathogenic+Table_4:_PTC_NMD_Δ(E4)_predicted._In-frame_Δ(E4,5)_expected_(c.425G>T_data)_and_suspected_functional_+selected;date=2023-11-14_11:06:13;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr13	32379501	11988	AAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35101206	11985	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+no_NDM_predicted_/_deletion_likely_disrupts_C-terminus_of_the_ATPase_domain_(PMID:_14704354,_19327148,_21111057)_and_RAD51C_interaction_domain_(PMID:_10749867,_14704354,_19327148)+selected$PS4+medium_pathogenic+PS4_mod_reported_in_37_out_of_590,001_NFE_in_gnomAD_V41_vs._5_out_of_13,840_index_cases_with_OC_from_GC-HBOC_(Odds_ratio:_5.7629,_95_%_CI:_2.2646_to_14.6653,_P_%1Y_0.0002)+selected;date=2026-03-13_11:50:03;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28711907	11965	A	T	.	.	classification=5;date=2016-09-08_00:00:00;source=heredicare
chr17	43067629	11944	T	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363526	11942	T	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP4+supporting_benign+_BayesDel_≤_0.18__AND_SpliceAI_≤_0.1+selected$BS3+strong_benign+Sahu_(2025,_PMID:_39779848)_%26_Huang_(2025,_PMID:_39779857):_functional+selected;date=2025-05-13_11:28:08;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43067659	11924	T	A	.	.	classification=3;date=2017-03-16_00:00:00;source=heredicare
chr13	32330993	11913	CAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32340798	11912	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43124081	11907	G	C	.	.	classification=1;source=heredicare
chr13	32325184	11891	G	T	.	.	classification=3%2B;comment=1X_in_60466_cases_in_BRIDGES,_not_in_controls,_5X_in_GC-HBOC_database;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PM2+supporting_pathogenic+absent_from_gnomAD_v2/v3_non-cancer_controls+selected$PP3+supporting_pathogenic+SpliceAI_%1Y_0.97+selected$BP5+supporting_benign+Parson:_LR:_0.358+selected;date=2024-07-09_11:21:44;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32316528	11886	G	T	.	.	classification=5;source=heredicare
chr17	43063936	11880	C	A	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	43124087	11860	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32340878	11857	G	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32379503	11839	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7674944	11813	C	T	.	.	classification=3;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|3|PM2+supporting_pathogenic+_Allele_frequency_gnomAD_v4.1.0_%1Y_0.00001053_(%1Y0.001%)_(thus_<_0.00003_(0.003%))+selected$PP3+supporting_pathogenic+BayesDel_0,58,_SpliceAI_unauff.,_aGVGD_Class_C65_kann_ich_nicht_rausfinden+selected$BS3+supporting_benign+Kato_(2003,_PMID:_12826609):_Transactivation_Class_%1Y_partially_functional%3B__Giacomelli_(2018,_PMID:_30224644)_LOF:_Etoposide_Z-score_%1Y_0.238369904_(thus,_No_LOF:_Etoposide_Z-score_>_-0.21)%3B_Kotler_(2018,_PMID:_29979965)_RFS_score_%1Y_-1.355497639_(thus,_<-1.0_for_noLOF)+selected;date=2025-07-08_11:28:45;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	43071032	11810	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32340161	11802	ATGTC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32331035	11798	G	C	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr22	28734532	11769	C	T	.	.	classification=R;comment=Stolarova_et_al._2023_neutral_in_CHK2_assay_intermediate_in_KAP1_Assay._Roeb_2012__´´damaging´´%3B_Kleiblova_2019__´´deleterious´´,_Boonen_2021_´´intermediate´´_Delimitosu_2019_benign._Dorling_et_al._(BRIDGES/BCAC)_60X_in_60,000_BC_cases_und_30X_in_53,000_Controls._Established_riskallel;criteria=ACMG_SVI_adaptation|3|PS3+supporting_pathogenic+Functional_Assays:_Comment:_Roeb_2012´´damaging´´%3B_Kleiblova_2019_´deleterious´´,_Boonen_2021__´´intermediate´´__Delimitosu_2019_s_benign_einstuft._Wu_X,_Dong_X,_Liu_W,_et_al.:_Characterization_of_CHEK2_mutations_in_prostate_cancer._Hum_Mutat_2006%3B27:742–7_´´reduced_autophosphorylation,_CDC25C_phosphorylation_and_severely_impaired_T68_phosphorylation´´._+selected$PS4+strong_pathogenic+PS4-risk_allel:_Boonen_2022:_OR_1,78.%3B_Stolarova_2023:_OR_3,02,_Dorling:_1,77)_Dorling_et_al._66/60466_BC_cases_and_33/53461_controls%3B_Stolarova:_72/73048_cases%3B_29/89658_controls+selected$BP4+supporting_benign+REVEL:_0.24+selected;date=2025-02-17_15:03:30;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7674227	11758	T	A	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr13	32332974	11745	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32340078	11720	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43093930	11691	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43070925	11680	C	G	.	.	classification=4M;comment=Taking_into_accout_the_results_of_the_splice_analysis_and_the_low_LRs_from_segregation_analysis_we_assume_that_this_variant_is_likely_to_be_a_variant_with_reduced_penetrance_in_comparision_with_other_LOF-variants_in_BRCA1.;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|4|PS1+medium_pathogenic+Apply_PS1_Moderate,_for_exonic_and_intronic_variants_with_same_predicted_impact_on_splicing,_as_a_previously_classified_(likely)_pathogenic_variant._Vary_weight_depending_on_relative_positions,_and_confidence_in_classification_of_the_reference_variant._Various_variants_in_this_splice_site_are_classified_as_pathogenic_e.g._c.4986%2B6T>G%3B_%2B1/2+selected$PS3+strong_pathogenic+Findlay_et_al._(PS3_met_as_per_ENIGMA/ClinGen_table_9)+selected$PM2+supporting_pathogenic+not_in_gnomAD_(90_families_in_GC-HBOC)+selected$PP3+supporting_pathogenic+Variant_is_predicted_to_have_a_splice_effect_by_SpliceAI_(threshold:_0.2,_value:_0.93).+selected;date=2024-10-10_16:14:50;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43071185	11659	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	7674797	11657	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43104861	11627	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43094022	11613	CTTTAA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58696801	11603	C	T	.	.	classification=2;date=2022-03-08_00:00:00;source=heredicare
chr3	37048980	11597	A	G	.	.	classification=2;date=2020-12-08_00:00:00;source=heredicare
chr17	43115775	11587	CCA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43063952	11573	CT	C	.	.	classification=5;source=heredicare
chr11	108310315	11558	G	C	.	.	classification=5;date=2020-04-22_00:00:00;source=heredicare
chr17	7675076	11556	T	C	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr17	43093261	11539	AC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32336872	11536	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363447	11533	CAGA	C	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PS3+strong_pathogenic+Mesman_et_al_2018._Not_able_to_complement_Loss_of_function_construct_in_Assay+selected;date=2024-10-08_11:54:50;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32379885	11526	C	CA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093449	11516	G	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	7676164	11513	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr16	68801876	11512	C	T	.	.	classification=3;date=2016-12-08_00:00:00;source=heredicare
chr16	23638131	11508	T	A	.	.	classification=3;date=2022-09-20_00:00:00;source=heredicare
chr2	47475272	11486	T	TA	.	.	classification=2;date=2020-01-14_00:00:00;source=heredicare
chr13	32336499	11485	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32337158	11466	G	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32337275	11463	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32338789	11461	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32332873	11433	A	C	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr13	32394781	11432	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32336214	11405	G	A	.	.	classification=1;source=heredicare
chr17	43092403	11400	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43095909	11389	C	T	.	.	classification=2;date=2022-10-25_00:00:00;source=heredicare
chr2	47410162	11388	T	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43049188	11385	A	G	.	.	classification=4;date=2018-07-10_00:00:00;source=heredicare
chr17	7676055	11379	C	A	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr13	32339570	11369	TATTTA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43104156	11352	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339636	11348	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7674185	11297	AGTCTTCCAGTGTGAT	A	.	.	classification=4;date=2016-09-08_00:00:00;source=heredicare
chr13	32357850	11295	G	A	.	.	classification=3;date=2021-03-09_00:00:00;source=heredicare
chr17	7669642	11279	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|2|BP4+supporting_benign+Silent_or_Intronic_Variants_(outside_±_1,2_positions):_SpliceAI_≤_0.1_+selected$BP7+supporting_benign+synonymous_variant_outside_of_the_core_splice_motif_for_which_SpliceAI_predicts_no_impact_to_the_splice_consensus_nor_the_creation_of_a_new_splice_site(BP4_is_met,_SpliceAI_≤_0.1)._BP7_cannot_be_applied_if_BP4_is_not_met.+selected;date=2025-11-18_10:38:45;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr13	32336480	11271	C	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43070922	11268	A	C	.	.	classification=5;source=heredicare
chr17	43051107	11239	C	A	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PS3+strong_pathogenic+Findlay_2018_(PMID:30209399)_-_LOF%3B_Fernandes_2019_(PMID:30765603)_-_Pathogenic+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3+selected;date=2025-07-08_12:03:27;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43082453	11218	A	T	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr16	68815553	11206	C	T	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+No_predicted_impact_on_splicing+selected$BP7+supporting_benign+The_variation_shows_a_not_conserved_nucleotide_(phyloP:_-1.46_[-19.0,_10.9]).+selected$BS1+strong_benign+gnomAD_v3:_East_Asian:_0.1347%+selected;date=2024-11-11_14:47:39;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43091628	11198	ACT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108325416	11192	C	T	.	.	classification=5;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|5|PS3+medium_pathogenic+kinase_activity_Meissner_(2013)_Mov_Disord_28:_1897_and_radiosensitivity_in_Gutiérrez-Enríquez_(2004)_Genes_Chromosomes_Cancer+selected$PM3+very_strong_pathogenic+Babaei_M_et_al._Hum._Genet._2005_Jul%3B117:101-6%3B_Buzin_CH_et_al._Hum._Mutat._2003_Feb%3B21:123-31%3B_Sandoval_N_et_al._Hum._Mol._Genet._1999_Jan%3B8:69-79%3B_Becker-Catania_SG_et_al._Mol._Genet._Metab.,_2000_Jun%3B70:122-33,_Meissner_et_al._Movement_Disorder_2013_and_others+selected$PP3+supporting_pathogenic+REVEL_0.85+selected;date=2024-05-15_15:58:41;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr13	32379613	11189	T	C	.	.	classification=1;source=heredicare
chr2	214809366	11185	T	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32379485	11179	GT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43067662	11142	TGTG	T	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|4|PM2+supporting_pathogenic+Absent_from_gnomAD+selected$PM3+medium_pathogenic+Borlin_2022_(PMID:_35373906):_1_Pat._comp._het._%2Bc.1116G>A_[p.(Trp372*)]%3B_2_months_severe_growth_retardation%2Bdysmorphic_features%2Bhyperpigmented,_13_months_CNS_tumor%3B_MMC-induced_chromosomal_breakage_analysis_in_peripheral_blood_lymphocytes_showed_strongly_reduced_proliferation_upon_stimulation,_but_no_evidence_of_increased_chromosomal_breakage%3B_phenotype:_cancer_diagnosis_≤5yr_%2B_FA_physical_features__score:_2_%1Y_moderate+selected$PP1+strong_pathogenic+_Among_these,_co-segregation_in_the_4_pedigrees_with_multiple_members_tested_(the_largest_one_is_shown_in_Figure_​Figure2)2)_resulted_in_a_combined_odds_in_favor_of_causality_of_16.1:1._Parsons_et_al._Segregation_LR%1Y17.557504599+selected;date=2024-01-18_15:39:13;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr13	32332944	11138	C	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32355033	11119	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7674252	11099	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr22	28695754	11089	G	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|BP4+strong_benign+REVEL_(aus_Alamut):_0.009_((0.003,_0.016])_-->_BP4_strong_(Pejaver_et_al.,_2022)_strength?+selected;date=2024-07-09_11:59:44;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28695215	11085	C	T	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr13	32339989	11074	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32339969	11073	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337005	11049	TCAGA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28694066	11039	G	T	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr13	32337116	11020	A	AT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32379413	11001	G	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32340486	10978	G	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32394577	10969	T	G	.	.	classification=1;source=heredicare
chr22	28689217	10968	T	C	.	.	classification=4;date=2021-05-11_00:00:00;source=heredicare
chr17	43045700	10950	TG	T	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr17	43091434	10948	C	T	.	.	classification=4M;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|4|PVS1+medium_pathogenic+Specifications_Table_4:_has_been_proven_to_result_in_production_of_naturally_occurring_in-frame_transcripts_delta11q_(Bonatti_et_al.,_2006_-_PMID:_17011978)_and_delta11_(Radice,_unpublished_data)_-->_PVS1_mod_(RNA)+selected$PS4+strong_pathogenic+Altersabhänige_Penetranzen_wurden_durch_ENIGMA_berechnet_und_zeigen_ein_reduziertes_Risiko_im_Vergleich_zu_BRCA1_PTVs_(unpublished_Data,_siehe_Tabelle_unter_Assays).+selected$BP5+supporting_benign+Combined_LR_Score:_0.3_(PMID:_31853058)+selected;date=2026-01-21_12:27:41;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32339636	10937	G	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr2	47471024	10934	A	G	.	.	classification=4;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0|4|PS3+pathogenic_Strong:+Jia_(2021,_PMID:_33357406):_positive_LoF-Function_score_%1Y_1.37_indicated_deleterious_effect+selected$PM2+supporting_pathogenic+gnomAD_v4.1:_MAF_(NFE):_1/1146674_+selected$PP3+medium_pathogenic+HCI_Prior:__probability_of_pathogenicity_0.9_//_spliceAI:_0.0_+selected;date=2025-07-09_12:27:51;scheme=ClinGen_InSiGHT_ACMG_MSH2_v1.0.0;source=heredivar
chr17	43057078	10929	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32344633	10925	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43045743	10924	C	CT	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PVS1+very_strong_pathogenic+As_per_ENIGMA_PVS1_decision_tree_and_table_4+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PM5+strong_pathogenic+As_per_ENIGMA_PVS1_decision_tree_and_table_4+selected;date=2024-08-13_11:48:42;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr16	68829693	10900	C	T	.	.	classification=3;date=2020-03-10_00:00:00;source=heredicare
chr16	23635536	10872	A	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32337428	10848	A	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+missense__variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1).+selected$BS1+supporting_benign+(FAF)_is_above_0.002%_(FAF_>_0.00002)_and_less_than_or_equal_to_0.01%_(FAF_≤_0.0001)_in_gnomAD_v2.1_(non-cancer,_exome_only_subset)_and/or_gnomAD_v3.1_(non-cancer)+selected;date=2024-07-08_15:39:39;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr22	28724974	10830	T	A	.	.	classification=4;date=2019-05-14_00:00:00;source=heredicare
chr11	108353819	10828	A	G	.	.	classification=4;date=2017-10-19_00:00:00;source=heredicare
chr13	32337160	10825	TAAAC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28725083	10818	ATCT	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Sodha_(2006,_PMID:_6982735):_reduced_phosphorylation_after_DNA_damage_Desrichard_(2011,_PMID:_22114986):_no_kinase_activity_Wagener_(2023,_PMID:_36468172):_low_expression_%26_only_slight_induction_of_CHK2-Thr68_phosphorylation_upon_irradiation_%2B_structural_modeling_from_Hines_(2019,_PMID:_30633282)_%26_Cai_(2009,_PMID:_19782031)_indicate_deleterious_function+selected$PM4+medium_pathogenic+in-frame_in_non-repeat_region+selected;date=2024-11-11_16:34:21;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32340233	10796	T	TGTA	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+in-frame_insertion_variant_outside_a_(potentially)_clinically_important_functional_domain_+selected;date=2025-05-13_11:20:33;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43093179	10771	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32362618	10758	T	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PM2+supporting_pathogenic+1x_in_gnomAD_v2+unselected$PP3+supporting_pathogenic+inside_a_(potentially)_clinically_important_functional_domain_and_predicted_impact_via_protein_change_(BayesDel_no-AF_score_≥0.30)_BayesDel_noAF_0.3652._+selected$BS3+strong_benign+Hu_2024_(PMID:_38417439):_HDR_function_normal_Sahu_(PMID:_39779848):_benign_in_SGE-Assay+selected;date=2025-02-21_11:47:21;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43092449	10742	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32396860	10739	T	G	.	.	classification=1;source=heredicare
chr17	58695161	10727	G	A	.	.	classification=2;date=2017-06-29_00:00:00;source=heredicare
chr17	43106433	10716	A	T	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr17	43092421	10714	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214745842	10710	G	A	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+Null_variant_in_a_gene_where_loss_of_function_(LOF)__is_a_known_mechanism_of_disease+selected$PS3+supporting_pathogenic+Adamovich_(PMID:_30925164):_non_function_in_HDR_assay+selected$PS4+strong_pathogenic+61_families_in_GC-HBOC,_More_frequent_in_BC_cases_compared_to_controls_PMID:_31142030%3B_and_Dorling_et_al._17/60466_cases_vs._6/53461_controls+selected;date=2025-12-09_11:42:37;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32340868	10697	GTC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32326620	10672	A	G	.	.	classification=1;source=heredicare
chr17	43070957	10642	C	T	.	.	classification=3%2B;date=2023-05-09_00:00:00;source=heredicare
chr13	32379745	10640	A	G	.	.	classification=5;date=2018-03-20_00:00:00;source=heredicare
chr17	43124082	10621	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32363367	10607	C	G	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PS3+strong_pathogenic+Reported_by_one_calibrated_study_incorporating_mRNA_splicing_effect_to_exhibit_pfunction_similar_to_pathogenic_control_variants_(PMID:29988080)._Splice_results_published:_exon_18_deletion,_2_studies_(PMIDs:_12145750,_18607349)_(VCEP_supplement_specifications_table_9_%2B_USCS_browser)+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PP3+supporting_pathogenic+Variant_inside_a_potentially_clinically_important_functional_domain_and_predicted_impact_via_protein_change_BayesDel_no-AF_score_%1Y_0.42_(thus_>_0.30)_+selected$PP4+very_strong_pathogenic+Combined_LR:_3040___(PMID:_17924331%3B_31853058)__+selected;date=2026-02-10_10:55:54;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43104252	10585	CT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32370576	10573	A	G	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr2	47798981	10561	C	T	.	.	classification=3;date=2019-07-09_00:00:00;source=heredicare
chr16	68833487	10532	C	T	.	.	classification=3;date=2018-08-28_00:00:00;source=heredicare
chr17	7676136	10519	G	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	43094569	10517	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58692646	10505	G	T	.	.	classification=3;date=2018-08-28_00:00:00;source=heredicare
chr13	32336300	10471	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092131	10467	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363404	10462	TCC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7673802	10454	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	43063922	10453	T	G	.	.	classification=4;date=2020-11-10_00:00:00;source=heredicare
chr11	108315872	10420	A	G	.	.	classification=4;date=2017-11-23_00:00:00;source=heredicare
chr17	43124094	10412	C	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32332667	10410	C	CTTAT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7675136	10385	G	A	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr17	43115739	10377	G	A	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr13	32326563	10371	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43104882	10350	T	A	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr13	32338064	10340	G	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PP4+supporting_pathogenic+Li_et_al:_Combined_LR_Score:_4.90334+selected$BP1+strong_benign+outside_domain,_SpliceAI:_0,0%3B_coldspot+selected;date=2025-05-13_11:14:46;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr16	23607887	10339	A	T	.	.	classification=5;comment=;criteria=ClinGen_ACMG_PALB2_v1.0.0|5|PVS1+very_strong_pathogenic+no_NMD,_truncated_region_is_critical_to_protein_function,_nonsense_introduces_a_PTC_upstream_of_p.His1184_+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PM5+supporting_pathogenic+upstream_p.H1184+selected;date=2024-01-09_11:53:11;scheme=ClinGen_ACMG_PALB2_v1.0.0;source=heredivar
chr17	7669668	10304	G	A	.	.	classification=3;date=2022-06-14_00:00:00;source=heredicare
chr13	32394884	10302	A	AAG	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47403288	10300	A	C	.	.	classification=2;date=2023-02-14_00:00:00;source=heredicare
chr13	32332489	10284	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32340022	10246	TATGGC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32341094	10239	A	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+missense__outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected$BS1+supporting_benign+FAF_gAD_v2_non-cancer:_0.00003128+selected;date=2024-12-10_10:19:30;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32332343	10213	A	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr7	6005918	10212	C	A	.	.	classification=4;date=2020-10-13_00:00:00;source=heredicare
chr13	32333292	10204	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32346801	10191	T	C	.	.	classification=1;source=heredicare
chr17	43067709	10165	A	G	.	.	classification=1;source=heredicare
chr17	43115745	10146	A	T	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	43115724	10099	A	C	.	.	classification=4;date=2020-01-14_00:00:00;source=heredicare
chr17	35107074	10071	C	T	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL_Score:_0.229+selected$BS1+strong_benign+TAF:_0.00005963_(gnomad_2.1,_non-cancer)+selected;date=2024-05-13_16:02:25;scheme=ACMG_SVI_adaptation;source=heredivar
chr10	87965294	10054	T	G	.	.	classification=4;date=2021-05-11_00:00:00;source=heredicare
chr13	32370557	10035	G	T	.	.	classification=4;date=2016-09-08_00:00:00;source=heredicare
chr3	37014532	10015	C	T	.	.	classification=4;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|4|PS3+medium_pathogenic+Bouvet_(2019,_PMID:_30998989)_-->_MT_assay_result:_76,37%_-->_potentially_damaging+selected$PM2+supporting_pathogenic+Grpmax_Filtering_AF_%1Y_0.000006320+selected$PM5+medium_pathogenic+MLH1:c.779T>G_(p.Leu260Arg)_classified_as_pathogenic_by_VCEP_in_2013_(ClinVar_Variation_ID:_90350)+selected$PP3+supporting_pathogenic+HCI_prior:_0,69+selected;date=2024-10-08_10:39:53;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr17	43051115	10014	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43115767	10008	G	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr3	37004473	9991	A	C	.	.	classification=2;date=2019-03-19_00:00:00;source=heredicare
chr13	32332622	9956	A	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr11	108289087	9931	T	C	.	.	classification=3;source=heredicare
chr17	35118625	9927	A	C	.	.	classification=2;date=2018-04-17_00:00:00;source=heredicare
chr13	32379885	9909	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43099833	9908	TC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32370604	9893	C	T	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr2	214745872	9891	G	C	.	.	classification=2;date=2021-09-14_00:00:00;source=heredicare
chr17	43063919	9874	A	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr13	32326517	9862	CAT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32398352	9860	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43057077	9835	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43094704	9831	G	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	7673734	9828	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|2|PM2+supporting_pathogenic+v4:_0.000001695+selected$BP4+supporting_benign+BayesDel_score_<_0.16_and_Align_GVGD_(Zebrafish)_is_Class_C0+selected$BS3+strong_benign+Transactivation_assays_show_supertransactivation_function_according_to_Kato,_et_al._and_there_is_no_evidence_of_a_dominant_negative_effect_or_loss_of_function_according_to_Giacomelli,_et_al._(BS3%3B_PMID:_12826609,_30224644).+selected;date=2024-11-11_14:52:16;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr13	32370490	9821	C	T	.	.	classification=3;comment=SpliceAI:_0.33,_PP3%3B_popmax:AFR_popmax_AF:0.000120645,_BS1_sup%3B;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PP3+supporting_pathogenic+Splice_AI_0.33+selected$BS1+supporting_benign+popmax:AFR_popmax_AF:0.000120645+selected;date=2023-11-14_11:28:34;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	43063882	9813	C	A	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	43092887	9802	AT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094516	9795	T	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32316512	9778	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7670630	9772	C	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32337673	9765	C	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43095861	9763	C	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PM2+supporting_pathogenic+gnomAD_v2,_v3:_absent_from_controls+selected$PP3+supporting_pathogenic+SpliceAI_DL_%1Y_0.58_(thus_>0.2)+selected;date=2025-12-09_12:27:02;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	7675048	9725	C	G	.	.	classification=3;date=2018-08-28_00:00:00;source=heredicare
chr17	43049156	9708	C	A	.	.	classification=2;date=2023-01-10_00:00:00;source=heredicare
chr17	43097306	9694	C	A	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr11	108353766	9674	G	A	.	.	classification=3%2B;date=2021-02-09_00:00:00;source=heredicare
chr13	32329415	9666	A	G	.	.	classification=1;source=heredicare
chr13	32329444	9624	CAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214729010	9622	T	C	.	.	classification=3%2B;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+strong_pathogenic+_not_predicted_to_undergo_NMD,_but_within_BRCT_domain_(Tayoun_et_al.,_2018_%1Y_PVS1_str)+selected$PM2+supporting_pathogenic+Absent_from_controls:_1x_in_gnomAD_v2.1.1_%26_3x_in_gnomAD_4.1.0+selected;date=2024-12-10_10:11:47;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43090962	9598	ACT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108284474	9587	G	A	.	.	classification=4;date=2018-04-17_00:00:00;source=heredicare
chr17	43115745	9570	A	G	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr17	7674875	9546	G	A	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr13	32363395	9545	GTTAGATCC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32319218	9541	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43106551	9536	A	C	.	.	classification=3;source=heredicare
chr17	7674947	9519	A	G	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	43074584	9510	G	C	.	.	classification=1;source=heredicare
chr17	43093574	9506	TTTTC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32333241	9487	A	G	.	.	classification=3-;date=2020-07-14_00:00:00;source=heredicare
chr17	7673752	9474	G	A	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr17	43092506	9465	A	AC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35103501	9456	G	A	.	.	classification=4;date=2019-02-12_00:00:00;source=heredicare
chr10	87894077	9449	C	T	.	.	classification=1;date=2018-04-17_00:00:00;source=heredicare
chr17	43092337	9419	T	TC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32379251	9417	T	G	.	.	classification=1;source=heredicare
chr13	32336542	9403	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32340264	9401	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32332697	9363	C	G	.	.	classification=3;date=2021-02-09_00:00:00;source=heredicare
chr17	7674944	9357	C	G	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	43071241	9342	GA	G	.	.	classification=3;source=heredicare
chr13	32326112	9336	T	C	.	.	classification=2;date=2021-11-09_00:00:00;source=heredicare
chr22	28725254	9279	G	A	.	.	classification=4;comment=Dorling_et_al._20/60466_cases_vs._9/53461_controls_(OR%1Y1.96%3B_0.89-4.32)_Stolarova_et_al._15/73048_cases_vs._5/88658_controls_(OR%1Y2.56_(0.88-9.00)___GC-HBOC__identified_in_57_families_(70patients)_(99.995_Indexpatients_tested)___63_in_590.000_NFEs_in_gnomAD_V4.1;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Stolarova_(2023,_PMID:_37449874)_KAP1_%26_CHK2-assay,_Boonen_(2022,_PMID:_34903604)_%26_Delimitsou_(2019,_30851065):_damaging_effect+selected$PS4+supporting_pathogenic+Stolarova_2023:_OR_2.56_(0.88-9.00)_p%1Y0.07__für_PS4_str_muss_p-value_≤.05_sein,_daher_hier_nur_supporting?+selected$PP3+supporting_pathogenic+REVEL_%1Y_0.812_(thus_[0.773,_0.932)_as_per_Pejaver_(2022,_PMID:_36413997))+selected;date=2025-07-09_09:58:51;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	214781158	9216	A	T	.	.	classification=3;date=2021-04-13_00:00:00;source=heredicare
chr17	61683520	9209	T	TA	.	.	classification=3;comment=Functional_analysis:_contradictory_results_(Xie_J_et_al._PLoS_Genet._Jul_2012%3B_8(7):_e1002786);criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+GnomAD_v4.1.0:_4_x_+selected;date=2025-05-13_12:13:03;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32319232	9192	G	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32332684	9188	T	A	.	.	classification=2;date=2018-11-13_00:00:00;source=heredicare
chr17	61808466	9186	C	T	.	.	classification=4;date=2018-11-13_00:00:00;source=heredicare
chr13	32398178	9174	GT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093118	9169	ACT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108268470	9125	T	C	.	.	classification=3;date=2016-03-10_00:00:00;source=heredicare
chr2	47799037	9124	G	A	.	.	classification=2;comment=;criteria=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0|2|BP4+supporting_benign+Weak/Null_probability_of_pathogenicity_from_damage_to_the_protein_sequence_:__0.10+selected$BS1+strong_benign+gnomAD_v4_GrpMAX_Filter_Allele_Frequency:_0,2%,__homozygous_in_gnomAD_V4+selected;date=2025-01-14_10:26:04;scheme=ClinGen_InSiGHT_ACMG_MSH6_v1.0.0;source=heredivar
chr16	23638125	9110	T	C	.	.	classification=1;date=2022-03-08_00:00:00;source=heredicare
chr13	32380084	9090	T	A	.	.	classification=2;date=2015-05-08_00:00:00;source=heredicare
chr22	28694091	9077	CCAA	C	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr13	32340887	9063	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32370400	9062	A	G	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr13	32338656	9020	A	T	.	.	classification=2;date=2015-05-08_00:00:00;source=heredicare
chr13	32357728	9017	T	C	.	.	classification=1;source=heredicare
chr13	32363333	9015	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32326239	9001	C	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PM3+medium_pathogenic+PMID:_27862952_(reviewed_in_36721989_als_VUS)_5-year-old_girl_with_unilateral_Wilms_tumor_(WT)_and_B-precursor_acute_lymphoblastic_leukemia_(ALL)_chromosomal_breakage_revealed_high_levels_of_spontaneous_breakages_(56%)%3B_crosslinking_agents_diexpoxybutane_(DEB)_and_mitomycin_C_(MMC)_both_induced_>_330%_breakage_and_>_3%_radial_formation_in_25–50_metaphases_seen—consistent_with_FA)%3B_Genetic_testing_revealed_biallelic_BRCA2/FANCD1_mutations:_888delGT_and_IVs5-3C>A.+selected$PP3+supporting_pathogenic+spliceAI:_0.260_(acceptor_loss)+selected$BS1+supporting_benign+gnomAD_v3.1_(non-cancer):_AF:_0.00002030+selected;date=2025-04-02_16:19:39;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	61847151	8993	C	T	.	.	classification=1;date=2018-11-13_00:00:00;source=heredicare
chr13	32340798	8977	CTA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43067685	8969	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	23603592	8908	A	T	.	.	classification=3;date=2016-03-10_00:00:00;source=heredicare
chr13	32344564	8903	C	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108284478	8898	G	T	.	.	classification=1;date=2021-02-09_00:00:00;source=heredicare
chr13	32363505	8888	T	A	.	.	classification=3;date=2023-03-28_00:00:00;source=heredicare
chr17	43067787	8870	T	C	.	.	classification=1;source=heredicare
chr3	37025638	8869	C	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+Posterior_probability_Thompson_et_al.,_2013/InSiGHT:_0.0002+selected$BS1+strong_benign+gnomAD_all_0.007275%,_in_EUR_0.01384%_(cut_off__VCEP_>0,01%_BS1)+selected;date=2024-02-19_16:33:56;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32332456	8844	C	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43045748	8843	C	CG	.	.	classification=4;date=2016-06-22_00:00:00;source=heredicare
chr17	43092509	8830	TTGAA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7673751	8816	C	T	.	.	classification=1;date=2020-09-16_00:00:00;source=heredicare
chr13	32326530	8774	G	C	.	.	classification=3;date=2019-03-19_00:00:00;source=heredicare
chr13	32396886	8761	T	G	.	.	classification=1;date=2018-10-09_00:00:00;source=heredicare
chr11	108365343	8754	C	T	.	.	classification=2;date=2022-09-20_00:00:00;source=heredicare
chr17	43094720	8733	C	A	.	.	classification=1;date=2017-03-16_00:00:00;source=heredicare
chr17	61776557	8722	C	G	.	.	classification=3;comment=PM2_sup%3B_PM3_sup,_PP3,_PS3_sup;criteria=ACMG_standard|3|PS3+supporting_pathogenic+Bharti_(2018):_"The_FANCJ-W647C_mutant_was_determined_to_be_completely_inactive_for_its_helicase_activity_(Supplementary_Figure_S15)_and_displayed_a_dramatic_17-fold_reduction_in_its_kcat_for_ATP_hydrolysis_(Supplementary_Table_S4)"+selected$PM2+supporting_pathogenic+1xhet_in_Gnomad_+selected$PM3+supporting_pathogenic+In_a_study_of_8_patients_diagnosed_with_Fanconi_Anemia_complementation_group_J_(FA-J),_this_variant_was_seen_in_a_patient_who_was_also_found_to_have_another_BRIP1_variant,_c.2119C>T_p.R707C_(Levitus_M_et_al._Nat._Genet._2005_Sep%3B37:934-5)._+selected$PP3+supporting_pathogenic+BayesDel_noAF_score_0.2629_REVEL_0.749+selected;date=2023-12-20_15:48:05;scheme=ACMG_standard;source=heredivar
chr17	43090934	8720	C	T	.	.	classification=1;date=2019-11-12_00:00:00;source=heredicare
chr17	43104880	8707	T	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr13	32398143	8701	G	A	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr13	32362585	8687	A	G	.	.	classification=4;date=2020-10-13_00:00:00;source=heredicare
chr17	7675077	8664	G	C	.	.	classification=4;date=2021-04-13_00:00:00;source=heredicare
chr2	47803408	8651	CTCTTT	C	.	.	classification=4;date=2020-02-18_00:00:00;source=heredicare
chr13	32319178	8638	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337234	8637	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094550	8596	T	C	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr17	43092039	8583	ACTAGTATCTTC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43071350	8578	GGTA	G	.	.	classification=1;source=heredicare
chr3	37004469	8564	A	G	.	.	classification=2;date=2018-05-08_00:00:00;source=heredicare
chr13	32339518	8549	CAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32336191	8545	T	C	.	.	classification=1;source=heredicare
chr13	32340432	8539	CAAGAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7675148	8538	G	T	.	.	classification=4;date=2020-08-18_00:00:00;source=heredicare
chr17	61780448	8526	C	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43076607	8517	T	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32394936	8511	A	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43099887	8494	A	T	.	.	classification=4;date=2016-12-08_00:00:00;source=heredicare
chr13	32376678	8491	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43099831	8457	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43049118	8454	T	G	.	.	classification=4;date=2020-07-14_00:00:00;source=heredicare
chr17	43091462	8438	CTTGA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58720778	8435	T	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|3|PP3+supporting_pathogenic+SpliceAI_acceptor_loss_score:_0.21+selected$BS1+strong_benign+gnomAD_v3.1.2_(non-cancer%3B_female)_GrpMAX_%1Y_0.00009199_%1Y_0.009199%_(>0.0000583_(0.00583%))+selected;date=2026-03-13_09:58:03;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	47806852	8424	G	T	.	.	classification=3;date=2018-08-28_00:00:00;source=heredicare
chr22	28699839	8411	T	G	.	.	classification=3;date=2017-11-23_00:00:00;source=heredicare
chr11	108284399	8403	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.5.0|2|BP4+supporting_benign+REVEL_0,134+selected$BS1+strong_benign+gnomAD_v4.1.0_Grpmax_Filtering_AF_%1Y_0.002758_(%1Y_0.28%%3B_thus_>_0.05%)_2x_homozygot_in_gnomAD_v2.1.1_(controls)+selected;date=2026-03-13_12:29:17;scheme=ClinGen_ACMG_ATM_v1.5.0;source=heredivar
chr11	108297271	8382	A	T	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|BP4+supporting_benign+SpliceAI_shows_impact_on_splicing._+selected;date=2025-01-14_10:44:49;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	43094423	8380	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43106477	8375	C	T	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PS3+strong_pathogenic+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMID:_30209399)_(PS3_met)._+selected$PM2+supporting_pathogenic+Absent_from_controls_+selected$PP3+supporting_pathogenic+inside_a_(potentially)_clinically_important_functional_domain_and_predicted_impact_via_protein_change_(BayesDel_no-AF_score_≥0.28)+selected$PP4+very_strong_pathogenic+Multifactorial_likelihood_ratio_analysis_using_clinically_calibrated_data_produced_a_combined_LR_for_this_variant_of_17239845573264_(based_on_Cosegregation_LR%1Y5300394%3B_Pathology_LR%1Y189%3B_Family_History_LR%1Y17201),_above_the_threshold_for_Very_strong_evidence_towards_pathogenicity_(>350)_(PP4_Very_strong_met%3B_PMID:_31131967,_31853058).+selected;date=2024-07-08_15:59:32;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43099787	8374	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr11	108247071	8370	C	T	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr13	32340315	8355	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32394726	8344	C	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43067567	8311	T	G	.	.	classification=3;source=heredicare
chr17	43093828	8288	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	7674926	8287	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr7	5973465	8270	C	T	.	.	classification=3;date=2022-10-25_00:00:00;source=heredicare
chr13	32356557	8263	C	T	.	.	classification=2;date=2021-06-08_00:00:00;source=heredicare
chr17	43095904	8235	C	G	.	.	classification=2;date=2021-01-12_00:00:00;source=heredicare
chr17	43074471	8216	C	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32329458	8206	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43070996	8172	T	C	.	.	classification=3;source=heredicare
chr13	32332434	8171	A	C	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr22	28725072	8170	T	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+damaging_by_Storalova_PMID:_37449874_%26_Delimitsou_PMID:_30851065+selected$PM2+supporting_pathogenic+1x_in_GnomAD_v3.1.2_non-cancer,_2x_in_GnomAD_v4.1.0_+selected$PP3+supporting_pathogenic+REVEL:_0.821+selected;date=2025-02-18_14:25:20;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43067608	8169	C	T	.	.	classification=5;date=2015-05-08_00:00:00;source=heredicare
chr16	23603592	8162	A	G	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr17	61857052	8145	AAT	A	.	.	classification=2;date=2021-11-09_00:00:00;source=heredicare
chr17	35101203	8105	G	A	.	.	classification=4;date=2021-01-12_00:00:00;source=heredicare
chr2	214809529	8104	ATCCTCGGCTGCCGGT	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|;date=2025-02-18_14:49:03;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32346708	8103	G	A	.	.	classification=3;source=heredicare
chr22	28696944	8100	T	G	.	.	classification=3;date=2021-09-14_00:00:00;source=heredicare
chr11	108250981	8099	G	T	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|PM3+supporting_pathogenic+Algahtani_(2021,_PMID:_32172615):_reported_homozygoues_in_female_%2B_sister_with_late-onset_AT_-->_2P_(Phenotype_consistent_%26_homozygous_occurence)+selected;date=2025-06-10_10:49:34;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr13	32379412	8076	G	T	.	.	classification=1;date=2022-05-17_00:00:00;source=heredicare
chr13	32337326	8072	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32319176	8069	A	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr19	1220467	8065	G	A	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL:_0.182+selected$BS1+supporting_benign+Dorling_2021:_2/60466_cases_%26_9/53461_controls_Flossies:_1/7325_EA_(AF:_0.0001365)_Momozawa_2018:_female_carrier_frequency_in_cases:_0,00014_1/7051_/_in_controls_0,00018_2/11421_[(OR:_0,8%3B_(p%1Y1_/_95%Cl:_0.0-15.4)]__Kim_2010:_1/179_lungCa_case_%26_1/398_healthy_control_gnomAD_v4_Group-Max_AF:_0.00003348+selected;date=2025-09-09_11:52:56;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28696929	8063	G	A	.	.	classification=3;date=2020-08-18_00:00:00;source=heredicare
chr17	43093425	8059	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7673820	8034	C	G	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr11	108315915	8027	A	G	.	.	classification=3%2B;date=2023-04-25_00:00:00;source=heredicare
chr13	32340392	8013	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108227732	7986	TAA	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32326499	7975	G	C	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.2.0|4|PVS1+strong_pathogenic+Baert_(2018,_PMID:_29280214):_Functional_splicing_minigene_assay_(without_quantification)_showed_variant_to_result_in_exon_7_skipping_and_leading_to_a_frame_shift_(r.517_631del,_p.Gly173Serfs*19)_+selected$PS4+strong_pathogenic+Found_in_8_out_of_92990_Indexpatients_with_BC_from_GC-HBOC_but_only_1X_in_584494_NFEs_in_gnomAD_V4.1_OR>5_and_P<0.001+selected$PM2+supporting_pathogenic+gnomAD:_absent_from_controls+selected$BP5+supporting_benign+Combined_LR_Score_0.47503_from_USCS_browser_(Li_et_al.)+selected;date=2026-03-13_12:24:30;scheme=ClinGen_ENIGMA_BRCA2_v1.2.0;source=heredivar
chr17	43057118	7970	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43124027	7965	A	G	.	.	classification=4;date=2016-09-08_00:00:00;source=heredicare
chr13	32398686	7948	CA	C	.	.	classification=2;comment=A_missense_or_nonsense_variant_predicted_to_modify_or_truncate_protein_sequence_at_residues_from_position_p.3309_onwards_is_considered_highly_unlikely_to_be_clinically_important_as_a_high-risk_variant.;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|;date=2025-02-17_14:41:24;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr16	23607914	7933	A	C	.	.	classification=1;date=2016-07-14_00:00:00;source=heredicare
chr13	32339667	7930	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7676161	7929	C	T	.	.	classification=1;date=2020-09-16_00:00:00;source=heredicare
chr8	89982865	7928	A	T	.	.	classification=1;date=2017-11-23_00:00:00;source=heredicare
chr11	108345896	7926	ACTT	GCTA	.	.	classification=3;date=2019-12-10_00:00:00;source=heredicare
chr17	43092980	7911	C	A	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|5|PVS1+very_strong_pathogenic+ENIGMA_table_4+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PM5+strong_pathogenic+ENIGMA_table_4+selected;date=2024-05-28_16:24:58;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr13	32319168	7910	AAAC	A	.	.	classification=2;date=2020-07-14_00:00:00;source=heredicare
chr17	7675085	7888	C	T	.	.	classification=4;date=2019-12-10_00:00:00;source=heredicare
chr13	32338907	7871	GA	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43071225	7866	G	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32357812	7844	AC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37000991	7841	A	G	.	.	classification=4;date=2022-07-12_00:00:00;source=heredicare
chr13	32340498	7825	A	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7673809	7789	C	G	.	.	classification=3;date=2019-12-10_00:00:00;source=heredicare
chr22	28725178	7782	G	A	.	.	classification=2;date=2018-11-13_00:00:00;source=heredicare
chr17	43091870	7775	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337701	7772	A	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr2	47795877	7769	A	G	.	.	classification=3;date=2020-07-14_00:00:00;source=heredicare
chr11	108365360	7764	G	A	.	.	classification=4;comment=;criteria=ClinGen_ACMG_ATM_v1.5.0|4|PS3+medium_pathogenic+Milanovic_(2021,_PMID:_33239428):_Mouse_models_carrying_this_variant_were_immunodeficient_and_displayed_spontaneous_craniofacial_abnormalities_and_delayed_lymphomagenesis_compared_with_WT_controls_%2B_Hanenberg_(2025_PMID:_40105422):_deleterious_+selected$PM3+strong_pathogenic+Cao_et_al.,_2023,_PMID_33598286:_in_AT_compound-het%3B_Strand_et_al.,_2020_PMID:_32754152:_in_trans,_compound-het,_AT%3B_Das_et_al.,_2023,_compound-het_,_PMID:_37075885%3B_Caputi_C_et_al.,_MOVEMENT_DISORDERS_CLINICAL_PRACTICE_2023%3B_10(1):_124–129_(compound-het)+selected;date=2026-03-13_12:28:09;scheme=ClinGen_ACMG_ATM_v1.5.0;source=heredivar
chr17	43092171	7723	AAC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43095875	7702	TC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32394942	7698	A	C	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr22	28689137	7683	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+results_in_the_truncation_of_the_critical_NLS-3__domain,_which_mediates_proper_localization_of_the_protein_(Zannini_L_et_al._J._Biol._Chem._2003_Oct%3B_278(43):42346-51),_not_predicted_to_undergo_NMD+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PM5+supporting_pathogenic+loss_of_NLS_(functional_analysis_in_Stolarova_2023)+selected;date=2025-10-14_11:18:29;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	58709984	7673	A	G	.	.	classification=2;date=2019-11-29_00:00:00;source=heredicare
chr13	32337707	7658	TTAG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32333182	7654	AC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	23621386	7641	G	A	.	.	classification=3;date=2018-04-17_00:00:00;source=heredicare
chr16	68833428	7620	G	A	.	.	classification=3;date=2023-02-14_00:00:00;source=heredicare
chr17	43076538	7615	C	A	.	.	classification=3;date=2018-08-28_00:00:00;source=heredicare
chr13	32326153	7613	A	G	.	.	classification=4;date=2019-10-08_00:00:00;source=heredicare
chr17	43070958	7611	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	61861537	7599	CAT	C	.	.	classification=3;date=2018-09-11_00:00:00;source=heredicare
chr16	68833344	7583	G	A	.	.	classification=1;date=2022-07-12_00:00:00;source=heredicare
chr13	32339546	7576	C	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32338334	7575	G	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32326115	7567	A	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr2	214730518	7562	ACA	CCC	.	.	classification=4;date=2021-11-09_00:00:00;source=heredicare
chr17	43115780	7528	C	G	.	.	classification=5;date=2020-08-18_00:00:00;source=heredicare
chr13	32339402	7518	CAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363370	7506	A	T	.	.	classification=4;date=2016-06-22_00:00:00;source=heredicare
chr13	32354905	7489	C	G	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr13	32333046	7481	A	G	.	.	classification=2;date=2020-07-14_00:00:00;source=heredicare
chr17	58720813	7480	G	A	.	.	classification=4;date=2018-04-17_00:00:00;source=heredicare
chr13	32336433	7476	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32370971	7457	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr16	23635254	7455	C	T	.	.	classification=3;date=2016-09-08_00:00:00;source=heredicare
chr13	32316463	7436	GC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363187	7429	C	T	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PP4+supporting_pathogenic+Combined_LR_Score_2.21201_(Parsons_et_al.)+selected$BP4+supporting_benign+BayesDel:_-0.2316%3B_spliceAI:0.01+selected$BS3+strong_benign+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_benign_control_variants_(PMID:33609447)_(BS3_met)._+selected;date=2025-04-02_16:21:41;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32332843	7392	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32370445	7387	T	C	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+Hart_2019_damaging,_Ikegami_2020_fClass_4,5__+selected$PM2+supporting_pathogenic+not_in_gnomAD_V3+selected$PP3+supporting_pathogenic+Variant_is_predicted_to_be_pathogenic_by_BayesDel_(threshold:_0.3,_value:_0.54225).+selected;date=2024-08-13_11:20:50;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43067503	7386	C	T	.	.	classification=1;source=heredicare
chr13	32330925	7377	A	G	.	.	classification=2;date=2023-03-28_00:00:00;source=heredicare
chr17	7674870	7314	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32338514	7301	T	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43092045	7267	AT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32344563	7265	C	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|PM2+supporting_pathogenic+not_in_gnomAD+unselected$BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected;date=2024-06-11_11:11:18;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr13	32340621	7256	AGCA	AC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43099814	7250	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr11	108289005	7220	C	T	.	.	classification=1;date=2016-12-08_00:00:00;source=heredicare
chr13	32329438	7211	TAC	T	.	.	classification=3;date=2023-03-28_00:00:00;source=heredicare
chr13	32340340	7201	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32316396	7198	G	A	.	.	classification=1;source=heredicare
chr16	68833362	7181	A	G	.	.	classification=2;date=2020-10-13_00:00:00;source=heredicare
chr17	43115668	7177	GT	G	.	.	classification=1;source=heredicare
chr17	43104882	7170	T	C	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr17	7673554	7155	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	7676103	7122	G	T	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr17	43093351	7116	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32370555	7105	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338502	7083	G	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32394724	7082	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43091773	7071	GAC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	23641145	7070	G	A	.	.	classification=3-;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|3|BP1+supporting_benign+Missense_variant_with_no_predicted_impact_on_splicing+selected;date=2025-05-13_11:54:09;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr17	43094464	7059	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32370549	7036	C	G	.	.	classification=3;date=2020-04-22_00:00:00;source=heredicare
chr17	43099760	7035	AC	A	.	.	classification=1;source=heredicare
chr17	43093055	6996	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32340392	6970	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214752568	6968	G	C	.	.	classification=3;date=2020-05-12_00:00:00;source=heredicare
chr17	7675095	6950	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr16	23603721	6949	TA	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32338213	6947	AAAT	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+BP1_str_for_inframe_deletion_outside_funct._domain,_spliceAI:0+selected;date=2025-05-13_11:15:48;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43082460	6921	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47408515	6912	A	G	.	.	classification=2;date=2023-03-28_00:00:00;source=heredicare
chr11	108353811	6907	T	C	.	.	classification=3;date=2017-03-16_00:00:00;source=heredicare
chr11	108272729	6891	C	G	.	.	classification=1;date=2016-03-10_00:00:00;source=heredicare
chr22	28695753	6876	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|BP4+supporting_benign+REVEL_%1Y_0,281+selected;date=2024-11-11_16:26:08;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43094403	6874	AT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	58709857	6872	A	G	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+strong_pathogenic+Sanoguera-Miralles_(2020,_PMID:_33333735):_PTC:Δ(E5p10):_33.5%_±_0.2%_%26_In-Frame:_Δ(E5):_65.4%_±_0.3%_as_per_Tayoun_(2018,_PMID:_30192042)_with_assumption_of_Exon_5_skipping_%26_reading_frame_preservation_-->_truncated_/_altered_region_is_critical_for_protein_function_:_STR+selected$PS4+strong_pathogenic+Suszynska_2020:_meta_analysis_29400_OC_cases_and_116000_controls%3B_OR_10.33%3B_3.82–27.95%3B_<_0.0001+selected;date=2025-05-13_12:03:35;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32337202	6871	T	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	23626394	6853	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32336869	6840	A	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$BP1+strong_benign+missense_variants_outside_aunctional_domain_AND_no_splicing_predicted_(SpliceAI_<%1Y0.1).+selected;date=2026-01-13_11:24:25;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32355200	6839	T	C	.	.	classification=2;date=2016-07-14_00:00:00;source=heredicare
chr17	43092196	6833	TCTTG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32344569	6819	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32355294	6808	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr11	108343346	6806	C	A	.	.	classification=3;comment=;criteria=ACMG_standard|3|PM2+supporting_pathogenic+1X_in_gnomAD_NFE+selected;date=2024-01-09_11:31:00;scheme=ACMG_standard;source=heredivar
chr17	43099803	6800	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43076571	6796	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7675132	6792	C	T	.	.	classification=2;date=2023-03-28_00:00:00;source=heredicare
chr11	108257519	6747	T	A	.	.	classification=2;date=2023-01-10_00:00:00;source=heredicare
chr13	32370464	6739	TA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47799279	6730	T	G	.	.	classification=4;date=2021-02-09_00:00:00;source=heredicare
chr13	32394606	6697	G	A	.	.	classification=1;source=heredicare
chr16	68829694	6694	G	A	.	.	classification=3;date=2019-05-14_00:00:00;source=heredicare
chr17	7669662	6687	T	G	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr11	108331550	6666	T	G	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|3|PM2+supporting_pathogenic+absent_from_gnomAD_v2%3B_gnomAD_v4_2/1178734,_AF_%1Y_0.000001697_(thus_≤_0.001%)+selected$PP3+supporting_pathogenic+REVEL:_0.95+selected;date=2025-01-14_10:47:58;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	58724069	6654	C	T	.	.	classification=4;date=2019-11-12_00:00:00;source=heredicare
chr13	32333028	6648	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43049182	6628	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108289590	6614	TTTA	T	.	.	classification=2;date=2022-12-06_00:00:00;source=heredicare
chr17	7670579	6604	T	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43093015	6603	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43045754	6597	A	G	.	.	classification=5;date=2019-03-19_00:00:00;source=heredicare
chr13	32340140	6587	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43093887	6586	AAT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43067625	6581	T	C	.	.	classification=4;date=2022-07-12_00:00:00;source=heredicare
chr17	7670712	6575	G	A	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr2	47445583	6566	ACTC	A	.	.	classification=4;date=2019-06-11_00:00:00;source=heredicare
chr17	43097281	6565	A	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.2.0|2|BP1+strong_benign+missense_variant_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1).+selected$BP5+supporting_benign+Combined_LR_score_0,26_(PMID_31853058)+selected;date=2026-03-11_15:05:26;scheme=ClinGen_ENIGMA_BRCA1_v1.2.0;source=heredivar
chr2	214780646	6510	TAGAC	T	.	.	classification=5;source=heredicare
chr17	43093653	6493	T	C	.	.	classification=2;date=2021-09-14_00:00:00;source=heredicare
chr13	32363225	6489	A	G	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr17	43092869	6476	G	A	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr3	37007048	6464	A	G	.	.	classification=2;date=2020-08-18_00:00:00;source=heredicare
chr2	214745722	6462	C	T	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+very_strong_pathogenic+Own_RNA-Analysis_(64984)_revealed_monoallelic_expression_of_the_wt-allel+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v4/3/2+selected;date=2025-08-12_12:06:17;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32394803	6459	A	T	.	.	classification=5;date=2019-06-11_00:00:00;source=heredicare
chr13	32340219	6446	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32346897	6441	G	A	.	.	classification=4;date=2018-08-28_00:00:00;source=heredicare
chr17	43076592	6418	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	58720767	6370	A	G	.	.	classification=2;date=2016-01-14_00:00:00;source=heredicare
chr17	7673790	6358	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32338969	6320	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43057113	6319	T	C	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr2	214767665	6309	T	C	.	.	classification=3;date=2022-04-12_00:00:00;source=heredicare
chr17	43092758	6298	T	G	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr13	32356590	6282	C	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32356440	6281	G	A	.	.	classification=2;date=2019-03-19_00:00:00;source=heredicare
chr13	32315669	6273	T	C	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PS1+supporting_pathogenic+BRCA2_c.-40%2B1G>A_was_identified_in_trans_in_a_patient_with_Fanconi_Anemia%3B_RNA_studies_have_demonstrated_that_this_alteration_results_a_similar_transcript_pattern_as_is_described_for_close_match_BRCA2_c.-40%2B1G>A_in_the_set_of_samples_tested_(Ambry_internal_data).+selected$PM2+supporting_pathogenic+Absent_from_controls+selected$PM3+medium_pathogenic+Fanconi_Anemia_(FA)_in_Berlin_2_siblings_compound_heterozygous_with_FA_in_childhood+selected;date=2024-05-03_12:48:25;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr22	28689152	6271	G	A	.	.	classification=2;date=2022-11-08_00:00:00;source=heredicare
chr17	43104860	6264	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32340887	6260	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr22	28689180	6254	C	G	.	.	classification=2;date=2020-11-10_00:00:00;source=heredicare
chr17	43091903	6197	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43045761	6193	A	G	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr17	43092985	6159	TCTTC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	68822165	6152	T	G	.	.	classification=3;date=2021-03-09_00:00:00;source=heredicare
chr17	43094273	6148	C	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32316463	6145	G	A	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr13	32340895	6143	G	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32380116	6117	G	A	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+Reported_by_two_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:33609447,_32444794)_+selected$PP3+supporting_pathogenic+_BayesDel_(no_AF)_%1Y_0.480582_(thus_>%1Y0.30)+selected$PP4+strong_pathogenic+Combined_LR_Score_%1Y_24.46734_(as_per_ENIGMA_BRCA1/BRCA2_specs_1.1.0_Track_Hub)+selected;date=2025-07-09_12:54:42;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	61683602	6111	G	T	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL:_0.072+selected$BS1+supporting_benign+gnomAD_(v4.1.0)_Grpmax_Filtering_AF_%1Y_0.0002926_(~_0.03_%)_392x_het._In_addition_Dorling,_2021_(PMID:_33471991_%26_LOVD):_18/60466_cases_%26_22/53461_controls_-->_OR_%1Y_0.72_(95%CI%1Y0.39-1.35),_thus_<1+selected;date=2025-02-21_12:04:08;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108353873	6107	TTCAGAAGG	T	.	.	classification=5;date=2018-11-13_00:00:00;source=heredicare
chr13	32371052	6101	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32357926	6097	A	G	.	.	classification=4;date=2023-04-25_00:00:00;source=heredicare
chr16	23603512	6070	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_PALB2_v1.0.0|2|BP1+supporting_benign+Apply_to_all_missense_variants+selected$BS1+strong_benign+GnomAD_v3:_FAF_non-cancer:_0.01017%+selected;date=2024-05-14_11:13:01;scheme=ClinGen_ACMG_PALB2_v1.0.0;source=heredivar
chr22	28697002	6054	A	T	.	.	classification=3;date=2021-01-12_00:00:00;source=heredicare
chr13	32325084	6052	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32339594	6047	A	AT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr10	87925550	6023	T	C	.	.	classification=5;date=2022-07-12_00:00:00;source=heredicare
chr22	28725242	6018	C	T	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+Null_variant_(nonsense,_frameshift,_canonical_±1_or_2_splice_sites,_initiation_codon,_single_or_multiexon_deletion)_in_a_gene_where_LOF_is_a_known_mechanism_of_disease+selected$PS4+strong_pathogenic+The_prevalence_of_a_variant_in_affected_individuals_is_significantly_increased_compared_to_controls:_Dorling_(2021,_PMID:_33471991):_66/60466_cases_and_28/53461_controls:_OR_%1Y_2.09_(95%CI%1Y1.34-3.24)_OR_for_familial_cancer_entities:_s._Cybulski_(2004,_PMID:_1549292):_BC_%1Y_2.3_(p %1Y 0.04)_Bąk_(2014,_PMID:_24713400)_BC_OR %1Y 3.0_(p %1Y 0.039)+selected;date=2026-01-13_12:18:00;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32325251	6005	A	C	.	.	classification=1;source=heredicare
chr17	7675109	5999	T	C	.	.	classification=4;date=2020-12-08_00:00:00;source=heredicare
chr11	108330222	5995	T	C	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|2|PM2+supporting_pathogenic+gnomAD_v.4.1.0:_7.200e-7+selected$BS3+medium_benign+Andreassen_et_al.:_BS3+selected;date=2025-04-02_16:16:37;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr13	32337342	5994	T	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	7673593	5988	G	C	.	.	classification=1;date=2020-09-16_00:00:00;source=heredicare
chr17	7676483	5977	G	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32326281	5953	AG	A	.	.	classification=5;source=heredicare
chr17	43082434	5934	G	C	.	.	classification=1;date=2015-05-08_00:00:00;source=heredicare
chr13	32337210	5932	C	A	.	.	classification=2;date=2021-01-12_00:00:00;source=heredicare
chr2	47783417	5921	C	T	.	.	classification=3;date=2018-11-13_00:00:00;source=heredicare
chr17	58695159	5877	G	T	.	.	classification=4;date=2018-04-17_00:00:00;source=heredicare
chr17	43093652	5875	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43070959	5871	A	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7675146	5870	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|2|PM5+supporting_pathogenic+LP_TP53_c.467G>C_p.(Arg156Pro)_PS3,_PS4_M,_PM2_P+selected$BP4+supporting_benign+BayesDel_≤_-0.008_irrespective_of_aGVGD_(except_C65)_-_BayesDEL:_-0.0272154%3B_C25__BP4_mod!!!_+selected$BS3+supporting_benign+Partially_functional_in_Kato,_noLOF_in_Giacomelli,_noLOF_in_Kotler,_No_data_in_Kawaguchi+selected;date=2025-11-18_10:36:08;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr11	108282699	5848	GGTTCGTGCAGGTTTTA	G	.	.	classification=4;date=2021-05-11_00:00:00;source=heredicare
chr17	43057117	5834	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214745160	5813	C	G	.	.	classification=4;date=2023-03-28_00:00:00;source=heredicare
chr13	32340586	5807	G	A	.	.	classification=3-;date=2018-03-20_00:00:00;source=heredicare
chr11	108256210	5792	T	A	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr17	43092919	5790	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr11	108271198	5773	GATGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGT	G	.	.	classification=5;date=2021-07-13_00:00:00;source=heredicare
chr11	108317374	5748	C	A	.	.	classification=5;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|5|PS3+medium_pathogenic+Nakamura_2014_(PMID:_25077176):_cell_line_with_mutated_ATM_cDNA_showed_a_trace-to-absent_transphosphorylation_of_downstream_ATM_targets_%26_ATM_cDNA_which_had_been_mutated_for_c.6200C>A_did_not_show_a_detectable_amount_of_ATM_protein_%2B_Ambry_Genetics_(Accession:_SCV000217431.8):_Based_on_internal_structural_analysis,_this_variant_is_anticipated_to_result_in_a_significant_decrease_in_structural_stability_(Ambry_internal_data)._+selected$PM2+supporting_pathogenic+V2:_0,0004%,_1_x_gefunden%3B_+selected$PM3+very_strong_pathogenic+Found_in_multiple_cases_of_AT_phenotype,_confirmed_in_trans_(e.g._PMID:_25077176_-->_Of_the_10_carriers,_6_were_homozygous_and_4_were_compound_heterozygotes_with_ATM_pathogenic_truncating_variants_and_segregated_in_trans)._+selected;date=2024-10-08_11:17:55;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr13	32355266	5708	A	G	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr17	43091440	5692	T	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr2	214730457	5675	T	TCATACTTTTCTTCCTGTTCA	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+As_per_PVS1_decision_tree_von_Tayoun_(2018):_Nonsense_or_Frameshift_-->_Not_predicted_to_undergo_NMD__Truncated/altered_region_is_critical_to_protein_function__PVS1_Strong+selected$PS3+medium_pathogenic+ClinVar_Invitae/LapCorp_2024:_While_the_functional_significance_of_deleting_the_second_BRCT_domain_has_not_been_addressed_experimentally,_studies_suggest_that_both_BRCT_repeats_in_BARD1_are_necessary_for_its_normal_functioning_(PMID:_17550235,_26738429,_17848578)_-->_PS3_??_Adamovich_et_al._PMID:_30925164_V767fs_LOF_in_HDR-,_Cisplatin-_and_IR-Assay_Toh_et_al._PMID:_31371347_FS_AA_612_impaired_Protein_function+selected;date=2025-02-11_11:27:29;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32363313	5669	C	T	.	.	classification=1;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP4+supporting_benign+BayesDel_no-AF_score_≤_0.15_AND_SpliceAI_≤0.1+selected$BS3+strong_benign+Reported_by_two_calibrated_studies_to_affect_protein_function_similar_to_benign_control_variants_(PMIDs:29988080,_Mesman_2019%3B_33609447,_Richardson)_(table_9,_BS3_met).+selected;date=2024-06-11_11:16:23;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	35106386	5668	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-07-08_15:40:25;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32398489	5633	A	T	.	.	classification=2;date=2020-04-22_00:00:00;source=heredicare
chr17	43063930	5597	C	T	.	.	classification=5M;comment=This_variant_is_considered_pathogenic_with_reduced_penetrance_relative_to_the_average_BRCA1_truncating_pathogenic_variant.;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30257991,_32546644,_30765603)_(PS3_met).+selected$PM3+supporting_pathogenic+1_case_with_comp_het_FA_(Keupp_2019,_PMID:_31347298)/Review_Hughes_2023_(PMID:_38146508)+selected$PP3+supporting_pathogenic+BayesDel_0,42+selected$PP4+strong_pathogenic+Combined_LR_25.5_PMID_31853058+selected$BS1+supporting_benign+gAD_v2_non-cancer_FAF:_0.00002497+selected;date=2026-01-14_11:53:11;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr13	32394814	5590	C	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32398716	5584	G	A	.	.	classification=2;date=2017-10-19_00:00:00;source=heredicare
chr11	108227626	5580	T	C	.	.	classification=5;date=2020-07-14_00:00:00;source=heredicare
chr11	108235708	5560	A	G	.	.	classification=2;date=2017-10-19_00:00:00;source=heredicare
chr13	32370421	5537	G	A	.	.	classification=4M;comment=ENIGMA_CWG_(manuscript_in_preparation)_Variant_with_reduced_risk!!!;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:29988080,_29884841,_32444794)+selected$PM3+strong_pathogenic+2_times_compound_heterozygous_in_FA-patients_(_IUGR,_microcephaly_Wilms-tumor_age_8,_,_T-cell_ALL_(Phi%2B),_age_3_)+selected$PP3+supporting_pathogenic+BayesDel_>0,3_inside_clinically_important_domain+selected$BP5+very_strong_benign+Combined_(Parsons_LR/ACMG_LLR)_8.73e-06_/_-15.9_(new_ENIGMA_data_in_preparation)+selected;date=2024-10-08_12:09:51;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43124028	5534	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28689187	5523	TC	T	.	.	classification=4;date=2017-06-29_00:00:00;source=heredicare
chr13	32340057	5504	A	T	.	.	classification=2;date=2021-12-14_00:00:00;source=heredicare
chr17	43070973	5502	G	T	.	.	classification=2;date=2022-12-06_00:00:00;source=heredicare
chr13	32326153	5473	AT	A	.	.	classification=4;date=2021-05-11_00:00:00;source=heredicare
chr17	35103449	5468	C	T	.	.	classification=3;date=2019-10-08_00:00:00;source=heredicare
chr17	7673704	5431	G	A	.	.	classification=5;date=2019-06-11_00:00:00;source=heredicare
chr11	108316030	5423	G	A	.	.	classification=4;date=2020-03-10_00:00:00;source=heredicare
chr11	108289727	5414	A	C	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|2|BP4+supporting_benign+REVEL:_0.102%3B_spliceAI:_0.0+selected$BS1+strong_benign+Grpmax_0,047_European_(non-Finnish)_1x_homozygous+selected;date=2025-06-10_10:51:56;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr22	28709998	5411	ATACT	A	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+strong_pathogenic+PVS1_str_(RNA)_cDNA_analysis_2014_Tü,_inframe_delEx7_(kinase_domain),_Invitae:_Studies_have_shown_that_this_variant_results_in_skipping_of_either_exon_7_(in-frame)_or_exons_7-8_(out-of-frame)_(PMID:_30264118%3B_internal_data)+selected$PS3+strong_pathogenic+PMID:_3105081,_PMID:_30851065%3B_The_most_pronounced_variant_effect_results_in_a_significantly_diminished_CHEK2_kinase_activity_in_vitro_in_an_experimental_system_that_measured_relative_levels_of_CHK2-dependent_KAP1-S473_phosphorylation_in_RPE1-CHEK2-KO_cells._The_following_publications_have_been_ascertained_in_the_context_of_this_evaluation_(PMID:_25186627,_22114986,_31422574,_31050813,_32906215,_31843900,_33050356,_35155181).+selected;date=2026-02-21_15:46:47;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7674913	5403	C	T	.	.	classification=2;date=2021-07-13_00:00:00;source=heredicare
chr17	43091690	5382	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214780842	5353	A	T	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP1+supporting_benign+missense_variant_in_gene_where_primarily_truncating_variants_cause_disease+selected$BP4+supporting_benign+REVEL_0,082+selected;date=2025-10-14_12:22:15;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32336213	5340	T	C	.	.	classification=1;source=heredicare
chr13	32336560	5337	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37025919	5336	G	A	.	.	classification=1;date=2019-11-12_00:00:00;source=heredicare
chr22	28695868	5323	AG	A	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+truncating_variant_within_(c.139-1493)+selected$PS4+strong_pathogenic+OR_2.26-3.10_Stolarova_2023:_OR,_2.73%3B_95%_CI,_2.29–3.26_/_Dorling_2021:_OR_2.66_/_Liang_2018_(in_Stolarova_2023?):_OR_2.89_(95%_CI%1Y_2.63-3.16)_/_Couch_2017:_OR_2,31_/_Schmidt_2016:_OR_2.26_/_Yang_2012_(in_Stolarova_2023?):_OR_2.75_(95%_CI%1Y2.25-3.36)_/_Zhang_2011:_OR_3.10_+selected$PM5+supporting_pathogenic+TF_8.7.2025:_supportive_of_PVS1+selected;date=2025-12-09_13:05:23;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7676040	5319	C	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr17	43091708	5314	T	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43082419	5231	T	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	7673803	5222	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32338161	5219	T	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr22	28725089	5191	T	C	.	.	classification=3;date=2021-09-14_00:00:00;source=heredicare
chr17	43094051	5190	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35119588	5189	C	G	.	.	classification=2;date=2023-03-28_00:00:00;source=heredicare
chr17	43094316	5175	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43106472	5173	TC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32355095	5159	A	T	.	.	classification=2;date=2017-11-23_00:00:00;source=heredicare
chr2	47482929	5151	C	T	.	.	classification=3;date=2018-09-11_00:00:00;source=heredicare
chr17	7674893	5121	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32363165	5111	G	A	.	.	classification=1;source=heredicare
chr17	61744570	5109	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PS3+supporting_pathogenic+funktionelle_Analysen_Bharti_et_al._2018%3B_Calvo_et_al._2021+selected$PP3+supporting_pathogenic+Revel_0,854,_aber_SIFT:_neutral,_..._nach_Canvog:_PP3_nur_als_Supp_zu_werten_%1Y>_Bewertungsstärke?+selected;date=2024-07-08_17:59:38;scheme=ACMG_SVI_adaptation;source=heredivar
chr16	23624049	5099	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43104070	5097	GA	G	.	.	classification=1;source=heredicare
chr17	43094495	5094	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr16	23635787	5091	TAG	T	.	.	classification=5;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|5|PVS1+very_strong_pathogenic+PVS1__as_per_the_PVS1_decision_tree+selected$PM3+medium_pathogenic+Reid_et_al.,_2007,_Nat_Genet,_comp_het_in_Patient_mit_FA,_erüllt_3_Kriterien_(Wilms_Tumor,_hypoplastic_thumb,_microcephaly),_%1Y>_2Punkte_%1Y>_mod+selected$PM5+supporting_pathogenic+Apply_to_frameshifting_or_truncating_variants_with_premature_termination_codons_upstream_of_p.Tyr1183,_based_on_location_of_the_most_C-terminal_known_pathogenic_variant,_p.Tyr1183*+selected;date=2024-08-13_11:26:55;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr17	35106423	5084	T	C	.	.	classification=3-;date=2023-04-25_00:00:00;source=heredicare
chr13	32333292	5083	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43104071	5076	A	G	.	.	classification=1;source=heredicare
chr22	28694073	5074	G	A	.	.	classification=4;date=2020-12-08_00:00:00;source=heredicare
chr13	32337870	5049	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32340629	5024	CTT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37017509	5014	G	A	.	.	classification=3;date=2019-01-08_00:00:00;source=heredicare
chr17	43092507	4962	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32341178	4954	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43091435	4946	C	T	.	.	classification=3;date=2018-08-28_00:00:00;source=heredicare
chr16	68737444	4919	C	CGCT	.	.	classification=2;date=2021-11-09_00:00:00;source=heredicare
chr17	61859862	4915	G	T	.	.	classification=3;date=2019-08-27_00:00:00;source=heredicare
chr16	23607918	4896	G	C	.	.	classification=2;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|2|BP1+supporting_benign+Apply_to_all_missense_variants+selected$BP4+supporting_benign+SpliceAI:_0.06_+selected$BS1+strong_benign+gnomAD_v4.1.0_Grpmax_Filtering_AF_(Total)_%1Y_0.0002254_(%1Y_0.02%,_thus_>_0,01%)+selected;date=2025-04-07_20:17:40;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr11	108271261	4891	T	C	.	.	classification=2;date=2019-06-11_00:00:00;source=heredicare
chr17	43093140	4870	TTC	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108271251	4867	C	T	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|2|PM2+supporting_pathogenic+absent_form_gnomAD_v3.1.2_(non-cancer)+selected$BP4+supporting_benign+No_predicted_splice_effect_(SpliceAI_/_MaxEntScan_/_NNSPLICE_/_Pangolin)+selected$BP7+supporting_benign+Synonymous_variant%3B_variant_shows_a_weakly_conserved_nucleotide_(phyloP:_0.28_[-19.0,_10.9])+selected;date=2024-10-11_13:13:15;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr13	32339810	4824	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr22	28687974	4798	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Not_predicted_to_undergo_NMD,_but_region_is_critical_to_protein_due_to_nuclear_localization_signal,_therefore_PVS1_STR_(PMID:12909615)+selected$PS4+supporting_pathogenic+reported_in_the_literature_in_breast,_ovarian,_prostate,_and_other_cancers_(PMID:_25503501,_25186627,_25318351,_32832836,_32761968,_35118230,)_20X_found_in_families_from_GC-HBOC+selected$PM5+supporting_pathogenic+truncated_protein_lacking_NLS_sequence+selected;date=2025-12-09_13:01:42;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	61861539	4779	T	C	.	.	classification=3;date=2018-07-10_00:00:00;source=heredicare
chr13	32363524	4778	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338803	4771	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108235839	4766	G	A	.	.	classification=4;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|4|PVS1+strong_pathogenic+Dörk_(2004,_PMID:_15054841)%3B_In-frame-skipping_of_Exon_5_(reading_frame_preservation)_-->_Located_in_HEAT-domain_-->_PVS1_STR_Ambry_Genetics_%26_Labcorp_internal_data_suggest_impact_on_splicing+selected$PM2+supporting_pathogenic+4x_GnomAD_v4.1.0,_absent_from_v2.1.1/3.1.2_non-cancer_AF_all_subpopulations_<%1Y0.001%_+selected$PM3+medium_pathogenic+Dörk_(2004,_PMID:_15054841):_found_together_with_c.7875_7876delTGinsGC_(p.Asp2625_Ala2626delinsGluPro)_-->_phenotype_consistent_%26_phase_unknown:_1P__Verhagen_(2009,_PMID:_19535770):_found_together_with_c.7875_7876delTGinsGC_(p.Asp2625_Ala2626delinsGluPro)_-->_severe_variant_A-T_phenotype_-->_phenotype_consistent_%26_phase_unknown:_1P_+selected;date=2025-04-07_20:06:49;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	43099827	4729	C	CA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37048515	4727	A	G	.	.	classification=3%2B;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|4|PVS1+strong_pathogenic+does_not_undergo_NMD_and_reading_frame_is_preserved._Skipped_exon_is_considered_disease_relevant_region.Truncated_exon_overlaps_the_following_clinically_significant_domains:_NES2_in_MLH1_EXO1_interaction_in_MLH1_PMS2/MLH3/PMS1_interaction_in_MLH1._+selected$PM2+supporting_pathogenic+gnomAD_v4.1.0_AF_%1Y_0.000008069_(thus_<_0.00002)+selected$PP4+supporting_pathogenic+Rajkumar_et_al.,_2004:_Cosegregation_in_CRC_family_(2_affected_members),_both_with_MSI-H,_methylation_not_tested,_therefore_strength_only_as_supporting+selected;date=2025-08-12_15:38:17;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr13	32329490	4710	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32337898	4709	ATT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28734725	4634	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|;date=2025-03-11_16:09:14;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32354948	4586	T	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	61716003	4584	G	A	.	.	classification=2;date=2020-02-18_00:00:00;source=heredicare
chr11	108330369	4554	G	A	.	.	classification=3;comment=;criteria=ClinGen_ACMG_ATM_v1.1.0|3|PP3+supporting_pathogenic+REVEL_0.883+selected;date=2024-04-09_09:44:14;scheme=ClinGen_ACMG_ATM_v1.1.0;source=heredivar
chr13	32379629	4537	A	C	.	.	classification=1;source=heredicare
chr13	32331000	4523	AAC	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr7	5973396	4521	C	T	.	.	classification=3;comment=no_criteria_applicable;criteria=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0|3|;date=2024-11-19_10:48:18;scheme=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0;source=heredivar
chr17	43047684	4515	A	G	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr11	108252002	4499	T	C	.	.	classification=2;date=2020-05-12_00:00:00;source=heredicare
chr22	28695879	4497	A	C	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr7	5982885	4470	C	T	.	.	classification=4;date=2022-01-18_00:00:00;source=heredicare
chr17	58695188	4446	T	C	.	.	classification=4;date=2018-11-13_00:00:00;source=heredicare
chr17	43057101	4442	C	T	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|4|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_affect_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30209399,_32546644,_30765603)_(PS3_met).+selected$PM2+supporting_pathogenic+Absent_from_gnomAD+selected$PP3+supporting_pathogenic+CADD:27.7_REVEL:_0.773__HCI_prior:0.81_BayesDEL:0.360228_spliceAI:BRCA1:0.0_+selected;date=2024-01-09_12:07:45;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr11	108312491	4394	G	T	.	.	classification=3;date=2016-06-22_00:00:00;source=heredicare
chr22	28694066	4389	G	A	.	.	classification=R;comment=PMID_33471991:_53461_controls,_60466_BC-cases_OR_1.63,_95%CI,_1,12-2,38,_p<0.01_PMID_37449874:_88658_controls,_73048_BC-cases_OR_1.88%3B_95%_CI,_1.35–2.64;criteria=No_scheme|-|;date=2025-02-18_13:08:35;scheme=No_scheme;source=heredivar
chr17	43045820	4378	A	T	.	.	classification=2;date=2018-04-17_00:00:00;source=heredicare
chr13	32325250	4375	A	C	.	.	classification=1;source=heredicare
chr17	43074330	4359	C	T	.	.	classification=5;source=heredicare
chr22	28699929	4358	C	T	.	.	classification=3;date=2019-11-12_00:00:00;source=heredicare
chr13	32329374	4346	T	C	.	.	classification=1;source=heredicare
chr17	43093268	4335	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108330214	4317	A	C	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr17	43047634	4305	G	A	.	.	classification=2;comment=BP4,_BP7,;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|BP4+supporting_benign+__spliceAI:_BRCA1:_0.0+selected$BP7+supporting_benign+located_outside_conserved_donor_or_acceptor_motif_positions_(at_or_beyond_positions_%2B7/-21)_IF_BP4_met+selected;date=2023-11-14_12:48:57;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr11	108289068	4286	T	A	.	.	classification=3-;date=2021-07-13_00:00:00;source=heredicare
chr17	43045734	4253	G	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr11	108292638	4247	G	C	.	.	classification=3;date=2022-10-25_00:00:00;source=heredicare
chr13	32380131	4215	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr16	68833485	4208	G	A	.	.	classification=2;date=2021-11-09_00:00:00;source=heredicare
chr2	214728708	4194	TCA	T	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Not_predicted_to_undergo_NMD,_PTC_in_last_11aa_in_critical_BRCT2_domain_(Relevant_domain_indicated_by_experimental_evidence_by_PMID:_17550235)+selected$PS3+medium_pathogenic+Published_functional_studies_suggest_a_damaging_effect:_reduced_HDR_activity_(Adamovich_et_al.,_2019)+selected$PS4+medium_pathogenic+case-control_OR_more_frequent_in_patients_(Öfverholm_et_al._2023,_PMID:_37563628_vs._UK-Biobank_Europäischen_control_cohort)_3_in_4622_case_genotypes_vs_2_in_314392_control_genotypes_gives_an_odds_ratio_of_102.1_(95%CI%1Y17.06-611.16)_11_families_in_GC-HBOC+selected;date=2025-11-17_20:10:26;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32332867	4188	A	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	7675088	4183	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr13	32394749	4148	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337288	4144	A	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32338566	4119	C	T	.	.	classification=2;date=2022-10-25_00:00:00;source=heredicare
chr13	32339204	4106	A	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr16	68822177	4093	C	G	.	.	classification=1;date=2020-03-10_00:00:00;source=heredicare
chr16	68813399	4042	G	A	.	.	classification=2;date=2018-04-17_00:00:00;source=heredicare
chr13	32357684	4028	T	C	.	.	classification=1;source=heredicare
chr2	214797118	4027	C	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Transcript_ENST00000260947_does_not_undergo_NMD_and_reading_frame_is_preserved._Skipped_exon_is_considered_disease_relevant_region.Truncated_exon_overlaps_the_following_clinically_significant_domains:_RING_in_BARD1._ENST00000619009:_PVS1_strong_applies:_Transcript_ENST00000619009_does_not_undergo_NMD_and_reading_frame_is_preserved._Skipped_exon_is_considered_disease_relevant_region.Truncated_exon_overlaps_the_following_clinically_significant_domains:_RING_in_BARD1._ENST00000613706:_PVS1_strong_applies:_Transcript_ENST00000613706_does_not_undergo_NMD_and_reading_frame_is_preserved._Skipped_exon_is_considered_disease_relevant_region.Truncated_exon_overlaps_the_following_clinically_significant_domains:_RING_in_BARD1._ENST00000421162:_PVS1_strong_applies:_Transcript_ENST00000421162_does_not_undergo_NMD_and_reading_frame_is_preserved._Skipped_exon_is_considered_disease_relevant_region.Truncated_exon_overlaps_the_following_clinically_significant_domains:_RING_in_BARD1._ENST00000620057:_PVS1_strong_applies:_Transcript_ENST00000620057_does_not_undergo_NMD_and_reading_frame_is_preserved._Skipped_exon_is_considered_disease_relevant_region.Truncated_exon_overlaps_the_following_clinically_significant_domains:_RING_in_BARD1._ENST00000455743:_PVS1_strong_applies:_Transcript_ENST00000455743_does_not_undergo_NMD_and_reading_frame_is_preserved._Skipped_exon_is_considered_disease_relevant_region.Truncated_exon_overlaps_the_following_clinically_significant_domains:_RING_in_BARD1._+selected$PS4+supporting_pathogenic+5X_in_GC-HBOC_in_BRIDGES_1X_in_53.000_controls_and_3X_in_60466_BC_cases+selected$PM2+supporting_pathogenic+Variant_is_absent_from_gnomAD.+selected$BP3+supporting_benign+Transcript_ENST00000260947_does_not_carry_variant_of_exonic_or_intronic_variant_type._ENST00000619009:_BP3_does_not_applies:_Transcript_ENST00000619009_does_not_carry_variant_of_exonic_or_intronic_variant_type._ENST00000613706:_BP3_does_not_applies:_Transcript_ENST00000613706_does_not_carry_variant_of_exonic_or_intronic_variant_type._ENST00000421162:_BP3_does_not_applies:_Transcript_ENST00000421162_does_not_carry_variant_of_exonic_or_intronic_variant_type._ENST00000620057:_BP3_does_not_applies:_Transcript_ENST00000620057_does_not_carry_variant_of_exonic_or_intronic_variant_type._ENST00000455743:_BP3_does_not_applies:_Transcript_ENST00000455743_does_not_carry_variant_of_exonic_or_intronic_variant_type._+unselected$BP4+supporting_benign+Variant_is_not_predicted_to_have_no_splicing_effect_by_SpliceAI.+unselected$BP7+supporting_benign+BP7_does_not_apply_to_this_variant,_as_BP7_does_not_apply_to_variant_types_upstream_gene_variant,_non_coding_transcript_variant,_nmd_transcript_variant,_intron_variant,_splice_acceptor_variant.+unselected$BS1+strong_benign+Variant_does_not_occur_in_gnomAD,_allele_frequency_in_gnomAD_is_assumed_to_be_0.+unselected$BA1+stand-alone_benign+Variant_occures_with_0_in_gnomAD_subpopulation_None.+unselected;date=2024-07-09_11:02:51;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32336490	4015	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	58703325	4012	C	G	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+As_per_Tayoun_(2018,_PMID:_30192042):_Nonsense_-->_Predicted_to_undergo_NMD_-->_Exon_is_present_in_biologically-relevant_transcript(s)_-->_PVS1_VST+selected$PS3+medium_pathogenic+Olvera-León_(2024,_PMID:_39299233):_fast_depleted+selected$PM5+supporting_pathogenic+As_per_CanVIG-UK_guidelines+selected;date=2026-02-10_11:56:07;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108293469	3999	C	T	.	.	classification=3-;date=2022-09-20_00:00:00;source=heredicare
chr17	43057122	3963	A	ACTT	.	.	classification=3;date=2020-11-10_00:00:00;source=heredicare
chr3	37048955	3943	G	A	.	.	classification=5;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|4|PM2+supporting_pathogenic+less_than_1_allel_in_50000_gnomAD_v4+selected$PP1+strong_pathogenic+InSight_:_z._B._13_ACI/ACII_families_(UK_family,_4_affected_non-proband_carriers),_5_German_families,_Polish_founder_mutation_(11_(10_Polish,_1_Lithuanian)_+selected$PP4+strong_pathogenic+Barnetson_(2008,_PMID:_18033691):_MSI-H_%26_Loss_of_MLH1_Expression_in_2_independent_tumors_Sheng_(2006,_PMID:_17054581):__MSI-H_%26_Loss_of_MLH1_Expression_in_1_tumor_%26_many_more+selected$BP4+supporting_benign+HCL-prior_probability_0.1_als_knapp_unter_Cut-Off_von_<0.11_für_BP4_+selected;date=2025-03-11_11:03:25;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr13	32333281	3888	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32316477	3873	AAG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32363390	3872	G	C	.	.	classification=4;date=2020-10-13_00:00:00;source=heredicare
chr13	32336600	3866	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32355150	3833	CA	C	.	.	classification=5;date=2016-12-08_00:00:00;source=heredicare
chr17	7676016	3824	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|2|PM2+supporting_pathogenic+not_in_gnomAD_v2.1.1%3B_gnomAD_v3.1.2:_MAF:_0.00001469_NFE%3B_1/152210+selected$PP3+medium_pathogenic+AGVGD_C65,___BayesDel_:_0.3466+selected$BS2+supporting_benign+2x_in_60%2B_wo_cancer(Ambry_Genetics)+selected$BS3+strong_benign+Kato:_functional,_Giacomelli:_notDNE_notLOF+selected;date=2025-02-18_12:40:33;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr13	32340803	3809	A	AAT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32380043	3807	C	T	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:29988080,_33609447,_32444794)_(PS3_met_according_to_Table_9)+selected$PP3+supporting_pathogenic+BayesDEL:_0.349996_and_within_BRCA2_DNA_binding_domain_(aa_2481-3186)_+selected$PP4+very_strong_pathogenic+Combined_LR_Score_478%3B_Li_et._al._2020_(PMID:_31853058)_und_Caputo_et_al._2021_(PMID:_34597585)+selected;date=2025-11-18_11:35:47;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32326303	3796	A	T	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr13	32316520	3780	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35119108	3776	C	A	.	.	classification=3;date=2020-09-18_00:00:00;source=heredicare
chr13	32316529	3761	T	C	.	.	classification=5;source=heredicare
chr17	43074406	3758	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7676574	3742	A	T	.	.	classification=2;date=2023-03-28_00:00:00;source=heredicare
chr17	43094514	3711	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28725265	3706	T	G	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3%3B_5x_het_in_gnomAD_v4.1.0_(Grpmax_FAF_%1Y_0.000001240_%1Y_0.0001%)+selected$PP3+supporting_pathogenic+REVEL:_0.738+selected;date=2025-10-14_11:28:11;scheme=ACMG_SVI_adaptation;source=heredivar
chr11	108365356	3701	G	GA	.	.	classification=5;date=2018-11-30_00:00:00;source=heredicare
chr17	43082550	3693	AG	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32394671	3668	C	CT	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7676047	3663	C	T	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr2	214809537	3662	C	A	.	.	classification=2;date=2020-08-18_00:00:00;source=heredicare
chr13	32379513	3653	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338096	3604	TAGTG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43104134	3601	T	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32363331	3575	GT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32380138	3574	A	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	61693462	3571	C	T	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Kamal_et_al._(2020)_PMID:33028645+selected$PM2+supporting_pathogenic+gnomAD_4.1.0:_0,0006%_gnomAD_3.1_(non-cancer):_0+selected$PM3+medium_pathogenic+homozygous_in_2_individuals_with_FA_by_Kamal_(2020),_PMID:_33028645_(in_one_FA_case,_the_carrier_lymphocytes_were_confirmed_to_exhibit_chromosomal_breakage_after_mitomycin_C_treatment)_%2B_homozygous_in_1_individual_with_FA_by_Steinberg-Shemer_(2020),_PMID:_31558676+selected$PP3+supporting_pathogenic+REVEL:_0.93+selected;date=2024-09-09_16:38:56;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43091983	3569	T	C	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32379913	3568	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092110	3567	GACT	G	.	.	classification=2;date=2021-11-09_00:00:00;source=heredicare
chr11	108272532	3558	G	T	.	.	classification=5;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|5|PVS1+very_strong_pathogenic+Eigene_RNA-Analysen_(37640):_Skipping_von_Exon_21,_._frame_shift,_monoallelische_Expression,_r.3078_3153del,_p.(His1027Leufs*12)+selected$PM2+supporting_pathogenic+Grpmax_Filtering_AF_%1Y_6.215e-7+selected$PM3+strong_pathogenic+Chen_(2013,_PMID:_23726790):_phenotype_confident_but_phase_unknown_-->_2_P_van_Os_(2017_%26_2020,_PMID:_28126470_%26_31776720):_phenotype_confident_but_phase_unknown_-->_2_P+selected;date=2024-10-08_11:01:34;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr13	32338329	3550	C	CTGCT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092352	3536	T	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr11	94478750	3535	C	T	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PP3+strong_pathogenic+REVEL:_0.956_-->_pathogenic_strong_BayesDel_noAF:_0.4376_-->_pathogenic_moderate_+selected$BS1+strong_benign+Grpmax_Filtering_AF_(95%_confidence)_0.0001123+selected;date=2024-09-10_11:11:02;scheme=ACMG_SVI_adaptation;source=heredivar
chr2	47800536	3498	CAAG	C	.	.	classification=3;date=2017-10-19_00:00:00;source=heredicare
chr13	32329467	3477	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28719491	3458	GAAGAA	G	.	.	classification=3;date=2020-04-22_00:00:00;source=heredicare
chr8	89978217	3453	T	C	.	.	classification=4;date=2017-10-19_00:00:00;source=heredicare
chr17	43104122	3431	C	A	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|PM2+supporting_pathogenic+Not_in_gnomAD+selected$BS3+strong_benign+Table_9_ENIGMA:_Reported_by_one_calibrated_study_to_affect_protein_function_similar_to_benign_control_variants_(PMID:32546644)_(BS3_met).+selected;date=2024-02-15_14:44:00;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr17	43126179	3429	G	GCGCACT	.	.	classification=2;source=heredicare
chr16	68811743	3392	G	A	.	.	classification=2;date=2019-07-09_00:00:00;source=heredicare
chr17	43047618	3390	G	T	.	.	classification=1;source=heredicare
chr7	5978622	3379	C	T	.	.	classification=4;comment=;criteria=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0|4|PS3+supporting_pathogenic+Drost_et_al._2013,_PMID:_24027009+selected$PM3+medium_pathogenic+This_variant_has_been_reported_to_occur_with_other_PMS2_pathogenic_variants_in_individuals_with_suspected_mismatch_repair_deficiency_syndrome_and/or_colorectal_cancer_(Senter_et_al._2008._PubMed_ID:_18602922%3B_Lavoine_et_al._2015._PubMed_ID:_26318770%3B_Table_S1,_Goodenberger_et_al._2016._PubMed_ID:_25856668)._In_at_least_one_case,_the_variants_were_determined_to_be_on_opposite_alleles_(Senter_et_al._2008._PubMed_ID:_18602922)._However,_in_at_least_two_individuals_with_colorectal_cancer_there_was_a_second_pathogenic_PMS2_variant_present%3B_however,_phase_was_not_determined_(Supplemental_Data,_Bodo_et_al._2015._PubMed_ID:_26116798%3B_Table_S1,_Goodenberger_et_al._2016._PubMed_ID:_25856668)._Strength?+selected$PP3+medium_pathogenic+MAPP/PP2_Prior_P_score:_0.9603_+selected$PP4+medium_pathogenic+Bodo_(2015,_PMID:_26116798):_ColorectalCa_-->_MSI_%26_PMS2_lost_in_Normal_and_Tumor_tissue_Senter_(2009,_PMID:_18602922):_IHC_results_from_these_probands’_tumor_analyses_[including_c.2249G>A]_demonstrated_loss_of_PMS2_expression_in_their_tumors_Goodenberger_(2016,_PMID:_25856668):_MSI-H,_IHC:_PMS2_loss__Shuen_(2019,_PMID:_30608896):_PMS2_loss_%26_MMR_activity:_8.27+selected;date=2024-11-19_10:49:08;scheme=ClinGen_InSiGHT_ACMG_PMS2_v1.0.0;source=heredivar
chr13	32337651	3373	C	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr16	23635296	3359	G	T	.	.	classification=2;comment=Missense_variant_with_relative_high_AF_(0.000205773)_in_NFE;criteria=ClinGen_ACMG_PALB2_v1.0.0|2|BP1+supporting_benign+Based_on_published_and_unpublished_functional_studies,_PALB2_has_a_low_rate_of_missense_variants_that_are_non-functional_in_relevant_assays._True_missense_pathogenic_variants_are_not_yet_confirmed_or_refuted_but_are_thought_to_be_exceedingly_rare._Given_the_very_low_likelihood_that_missense_variants_are_pathogenic,_this_rule_applies_to_all_missense_variants_in_PALB2.+selected$BS1+strong_benign+popmax:NFE_popmax_AF:0.000205773+selected;date=2023-12-19_12:06:36;scheme=ClinGen_ACMG_PALB2_v1.0.0;source=heredivar
chr17	43099940	3352	T	G	.	.	classification=1;source=heredicare
chr13	32338682	3322	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32337794	3313	A	G	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43106453	3305	T	C	.	.	classification=5;source=heredicare
chr13	32354847	3294	T	C	.	.	classification=1;source=heredicare
chr13	32355292	3288	T	A	.	.	classification=2;date=2020-03-10_00:00:00;source=heredicare
chr17	43094365	3266	CT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108335014	3249	T	C	.	.	classification=3%2B;date=2022-09-20_00:00:00;source=heredicare
chr17	43093620	3231	A	G	.	.	classification=2;date=2019-07-09_00:00:00;source=heredicare
chr19	1226556	3228	C	T	.	.	classification=2;comment=Frequently_found_in_patients_without_signs_of_PJS;criteria=ACMG_SVI_adaptation|3|BS1+strong_benign+AC:77_AF:0.000505747_hom:0_het:77_popmax:NFE_popmax_AF:0.000867162_popmax_AC:59_popmax_faf95:0.000689550_significantly_greater_than_the_maximum_expected_allele_frequency_for_a_pathogenic_STK11_variant_of_0.0000063_FLOSSIES__num_AFR:0_num_EUR:10+selected;date=2024-05-03_08:30:02;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43067610	3218	G	A	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr11	108289689	3208	T	C	.	.	classification=3;comment=PP3,_BS1;criteria=ACMG_standard|3|PP3+supporting_pathogenic+REVEL:0.733+selected$BS1+strong_benign+Filtering_Allele_Frequency_>.05%._+selected;date=2023-11-14_10:55:06;scheme=ACMG_standard;source=heredivar
chr13	32332820	3199	C	T	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32326135	3172	CAA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28699843	3161	C	G	.	.	classification=3;date=2018-03-20_00:00:00;source=heredicare
chr17	43093180	3137	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32340672	3121	T	C	.	.	classification=2;date=2021-07-13_00:00:00;source=heredicare
chr13	32339553	3105	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43092448	3103	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr22	28696960	3094	G	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PS3+strong_pathogenic+Delimitsou,_2019_(PMID:_30851065):_Damaging,_Stolarova,_2023_(PMID:_37449874):_functionally_impaired+selected$PS4+medium_pathogenic+_OR_5.06_(95%_CI_1.09_to_23.5)%3B_p%1Y0.017]_(Southey_MC_et_al._J._Med._Genet._2016_Dec%3B53:800-811)+selected$PP3+supporting_pathogenic+REVEL_0,78+selected;date=2025-02-11_11:07:03;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32338786	3087	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32346706	3085	C	T	.	.	classification=3;source=heredicare
chr11	108353888	3072	A	C	.	.	classification=1;date=2019-08-27_00:00:00;source=heredicare
chr17	43057080	3052	TTTG	T	.	.	classification=3%2B;date=2023-03-28_00:00:00;source=heredicare
chr13	32371027	3013	AT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32355298	3002	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr16	68812244	2990	C	T	.	.	classification=2;date=2021-05-11_00:00:00;source=heredicare
chr17	43047728	2944	A	T	.	.	classification=3;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|3|PVS1+strong_pathogenic+PVS1_RNA_:_Ambry_internal_data_(Accession:_SCV001186006.5)_%26_Høberg-Vetti_(2020%3B_PMID:_32203205)_Analysis_of_patient-derived_cDNA_from_blood,_normal_breast_and_ovarian_tissue_indicates_that_this_variant_leads_to_skipping_of_exon_23,_resulting_in_frameshift_and_protein_truncation,_p.Gly1803GlnfsTer11._Høberg-Vetti_(2020%3B_PMID:_32203205):_Sequencing_of_the_two_products_from_carriers_of_the_BRCA1_c.5407-25T>A_variant_showed_both_a_normal_transcript_and_a_transcript_lacking_exon_23_(r.5407_5467del)%3B__NGS-based_sequencing_of_blood-derived_RNA_from_three_different_carriers_showed_that_the_full-length_transcript_from_the_variant_allele_represented_10–13%_of_the_total_full-length_transcript._Sequencing_of_RNA_isolated_from_normal_breast_tissue_from_one_of_the_carriers_showed_that_full-length_transcript_from_the_variant_allele_represented_20%_of_the_total_full-length_transcript._-->_As_per_Table_9_of_CSpec:_70-80%_proportion_of_non-functional_transcript_-->_PVS1_RNA_applicable+selected;date=2024-12-10_10:49:22;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43106469	2927	C	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43093452	2910	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr11	108326070	2888	G	A	.	.	classification=2;comment=;criteria=ClinGen_ACMG_ATM_v1.3.0|2|BS3+medium_benign+Published_functional_studies_demonstrate_no_damaging_effect:_most_show_no_or_minimal_impact_on_protein_expression,_kinase_activity,_ability_to_correct_the_radiosensitive_phenotype_of_A-T_cell_lines,_and_levels_of_radiation-induced_chromosome_aberrations_(Stankovic_et_al.,_1999%3B_Scott_et_al.,_2002%3B_Barone_et_al.,_2009)_Paper_Andreassen:_et_al_unpublished_BS3_Str+selected;date=2024-09-09_15:54:57;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr7	5995612	2859	T	C	.	.	classification=4;date=2019-08-27_00:00:00;source=heredicare
chr17	61799264	2854	T	C	.	.	classification=2;comment=;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+SpliceAI:_0.0+selected$BP7+supporting_benign+A_synonymous_variant_for_which_splicing_prediction_algorithms_predict_no_impact_to_thesplice_consensus_sequence_nor_the_creation_of_a_new_splice_site_AND_the_nucleotide_is_not_highly_conserved+selected;date=2024-05-14_11:19:53;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32344733	2853	G	GTTAA	.	.	classification=1;source=heredicare
chr13	32337853	2847	CAT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32357881	2821	G	C	.	.	classification=3;date=2015-07-10_00:00:00;source=heredicare
chr11	108353818	2819	T	TAGACTCACC	.	.	classification=3;date=2020-08-18_00:00:00;source=heredicare
chr17	7676281	2812	G	A	.	.	classification=2;date=2021-09-14_00:00:00;source=heredicare
chr13	32339340	2795	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43094238	2787	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108333940	2782	ATGT	A	.	.	classification=4;date=2019-08-27_00:00:00;source=heredicare
chr13	32340473	2781	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43092391	2777	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43094243	2776	C	CT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093010	2740	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32338942	2737	G	GA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47480877	2723	T	C	.	.	classification=2;date=2020-06-16_00:00:00;source=heredicare
chr13	32326085	2720	CTTTGT	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v2/3)+selected$PP3+supporting_pathogenic+SpliceAI_≥_0.2+selected$BP5+medium_benign+Combined_LR_(Parsons_2019):_0.1359_(cutoff_0.23:1<LR<0.05:1)+selected$BS2+medium_benign+Nix_2020_(PMID:_35050751):_in_2_individuals_with_no_known_features_of_Fanconi_anemia_confirmed_in_trans_with_BRCA2_c.7719dupA_or_c.9257-1G>C+selected;date=2024-04-09_11:41:30;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	7674259	2705	T	C	.	.	classification=1;date=2020-09-16_00:00:00;source=heredicare
chr17	43093613	2686	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43074472	2661	T	A	.	.	classification=1;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|1|BP1+strong_benign+missense__variants_outside_a_(potentially)_clinically_important_functional_domain_AND_nosplicing_predicted_(SpliceAI_≤0.1)+selected$BS3+strong_benign+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_benign_control_variants_(PMID:30765603)_(BS3_met)+selected;date=2024-11-11_15:56:59;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	7674230	2655	C	T	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	58724070	2652	G	A	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PM3+medium_pathogenic+ClinVar_Eintrag:_This_missense_change_has_been_observed_in_individual(s)_with_Fanconi_anemia_(PMID:_29278735)._In_at_least_one_individual_the_data_is_consistent_with_being_in_trans_(on_the_opposite_chromosome)_from_a_pathogenic_variant._+selected$PM5+medium_pathogenic+RAD51C_c.934C>T_p.R312W_%1YLP_+selected;date=2025-04-02_15:21:49;scheme=ACMG_SVI_adaptation;source=heredivar
chr22	28694085	2641	C	G	.	.	classification=3;date=2021-01-12_00:00:00;source=heredicare
chr17	43093257	2638	CA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214769277	2617	A	C	.	.	classification=3;date=2022-04-12_00:00:00;source=heredicare
chr13	32338093	2615	TA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43067763	2605	T	C	.	.	classification=1;source=heredicare
chr16	23603525	2600	C	T	.	.	classification=2;date=2016-03-10_00:00:00;source=heredicare
chr13	32339580	2598	A	T	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr17	43091563	2588	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093119	2585	C	G	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7676569	2580	C	T	.	.	classification=3;date=2020-09-16_00:00:00;source=heredicare
chr22	28695800	2567	T	G	.	.	classification=4;date=2016-06-22_00:00:00;source=heredicare
chr13	32340618	2566	C	T	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+silent_substitution_outside_a_(potentially)_clinically_important_functional_domain,_SpliceAI%1Y0+selected;date=2025-11-17_19:45:50;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43051050	2564	C	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32370986	2524	A	G	.	.	classification=3-;date=2021-12-14_00:00:00;source=heredicare
chr17	43090997	2519	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr22	28725317	2482	A	C	.	.	classification=3;date=2020-12-08_00:00:00;source=heredicare
chr13	32340623	2469	CAT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108326169	2467	C	T	.	.	classification=2;date=2022-07-12_00:00:00;source=heredicare
chr13	32326151	2443	G	T	.	.	classification=5;date=2020-09-18_00:00:00;source=heredicare
chr13	32370412	2436	A	T	.	.	classification=4M;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+as_per_Table9_BRCA12VCEP_specs_%2B_Huang_et_al._(2025,_PMID:_39779857):_PS3_STR_%2B_Sahu_et_al._(2025,_PMID:_39779848):_PS3_STR_%2B_Hu_et_al._(2024,_PMID:_38417439):_Abnormal_HDR_Function+selected$PM2+supporting_pathogenic+absent_from_GnomAD_v4.1.0+selected$PP3+supporting_pathogenic+BayesDEL:_0.35996_and_within_BRCA2_DNA_binding_aa_2481-3186+selected$BP5+supporting_benign+Combined_LR_Score:_0.3944_(Parsons_et_al.,_2019)+selected;date=2025-10-14_12:33:22;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43094821	2408	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr22	28694026	2399	A	G	.	.	classification=4;date=2018-05-08_00:00:00;source=heredicare
chr11	108316029	2363	C	G	.	.	classification=3;date=2017-05-11_00:00:00;source=heredicare
chr13	32379480	2357	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32333264	2354	G	C	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43104138	2348	G	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr13	32398607	2340	TC	TGAATTATATCT	.	.	classification=2;comment=missense_or_nonsense_variant_predicted_to_modify_or_truncate_protein_sequence_at_residues_from_position_p.3309_onwards_is_considered_highly_unlikely_to_be_clinically_important_as_a_high-risk_variant.;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|3|PM2+supporting_pathogenic+absent_from_controls+selected;date=2025-02-12_11:46:18;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32333030	2328	G	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32362574	2318	G	C	.	.	classification=4;date=2022-03-01_00:00:00;source=heredicare
chr13	32356497	2316	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32398142	2314	C	T	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr11	108253851	2304	T	C	.	.	classification=3;date=2016-03-10_00:00:00;source=heredicare
chr22	28725099	2285	A	G	.	.	classification=2;date=2018-08-28_00:00:00;source=heredicare
chr16	23630194	2270	T	C	.	.	classification=3;date=2019-11-12_00:00:00;source=heredicare
chr17	43094797	2228	T	A	.	.	classification=1;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|1|BP1+strong_benign+no_impact_on_splicing_(SpliceAI),_outside_functional_domain_+selected$BS3+strong_benign+Reported_by_one_calibrated_study_to_exhibit_protein_function_similar_to_benign_control_variants_(PMID:32546644)_(BS3_met).+selected;date=2024-09-09_16:23:09;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43092412	2219	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43094519	2196	T	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32339965	2193	CAGTAA	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	47480693	2190	T	C	.	.	classification=2;date=2018-05-08_00:00:00;source=heredicare
chr13	32363257	2185	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr10	87965270	2159	AAATTTTCTTTCTCT	A	.	.	classification=3;date=2016-03-10_00:00:00;source=heredicare
chr13	32332343	2158	A	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|BP1+strong_benign+(SpliceAI_<%1Y0.1)+selected;date=2024-08-13_11:15:59;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32355105	2145	A	G	.	.	classification=2;date=2021-09-14_00:00:00;source=heredicare
chr13	32319060	2137	AT	A	.	.	classification=1;comment=In_summary,_this_variant_meets_the_criteria_to_be_classified_as_a_Benign_variant_for_BRCA2-related_cancer_predisposition_based_on_the_ACMG/AMP_criteria_applied_as_specified_by_the_ENIGMA_BRCA1/2_VCEP_(BS1_Supporting,_BP4,_BP7_Strong_(RNA),_BS3,_BP5)_see_entry_by_ENIGMA_for_details.;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|1|BP4+supporting_benign+ENIGMA+selected$BP5+supporting_benign+ENIGMA+selected$BP7+strong_benign+ENIGMA+selected$BS1+supporting_benign+ENIGMA+selected$BS3+strong_benign+ENIGMA+selected;date=2024-05-03_12:51:53;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr11	108292771	2110	A	T	.	.	classification=3-;date=2021-02-09_00:00:00;source=heredicare
chr16	68738336	2087	C	A	.	.	classification=2;date=2018-03-20_00:00:00;source=heredicare
chr22	28687973	2085	C	A	.	.	classification=3;comment=Stolarova:_KAP1:_WT%3B_CHK2:_functionally-impaired_(KAP1<0.41%3B_CHK2<0.48)_(0,432)%3B_Delimitsou:_intermediate.;criteria=ACMG_SVI_adaptation|2|BP4+supporting_benign+REVEL:(0.065)+selected$BS1+strong_benign+FAF_v4_0.001055_(ClinGen_ATM:_Grpmax_Filtering_AF_>.05%_in_gnomAD_v4_dataset)+selected;date=2025-09-09_12:03:13;scheme=ACMG_SVI_adaptation;source=heredivar
chr16	23624027	2069	A	C	.	.	classification=1;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|1|BP1+supporting_benign+Missense_variants_in_PALB2_where_primarily_truncating_variants_are_known_to_cause_disease.+selected$BA1+stand-alone_benign+BA1_GnomAD_v2%2B3_non_cancer_Grpmax_FAF_NFE_>0,1%+selected;date=2024-08-13_11:25:24;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr11	108365398	2065	G	T	.	.	classification=4;date=2022-07-12_00:00:00;source=heredicare
chr13	32394688	2063	G	C	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PVS1+supporting_pathogenic+as_per_PVS1_decision_tree_and_Table_4+selected$PS3+strong_pathogenic+Huang_et_al._2025_(pathogenic_-_strong)_und_Sahu_et_al._2025_(pathogenic_-_very_strong,_Table_S5)+selected$PM2+supporting_pathogenic+absent_from_controls_(gnomAD_v2,_v3,_v4)+selected$PP4+very_strong_pathogenic+Combined_LR_Score_%1Y_8695.28622+selected;date=2026-01-13_11:27:49;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr11	108335029	2060	C	T	.	.	classification=3;date=2016-08-11_00:00:00;source=heredicare
chr13	32339565	2059	ATACT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43045761	2048	A	T	.	.	classification=4;date=2016-07-14_00:00:00;source=heredicare
chr17	43092596	2029	G	A	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr10	87931033	2002	ACTTTT	A	.	.	classification=1;date=2021-05-11_00:00:00;source=heredicare
chr13	32337619	1978	T	C	.	.	classification=1;date=2017-02-15_00:00:00;source=heredicare
chr17	7674203	1968	T	C	.	.	classification=2;date=2023-05-09_00:00:00;source=heredicare
chr22	28725027	1932	C	T	.	.	classification=2;date=2020-08-18_00:00:00;source=heredicare
chr17	7673726	1925	C	T	.	.	classification=2;date=2018-07-10_00:00:00;source=heredicare
chr11	108347374	1918	T	G	.	.	classification=2;date=2021-07-21_00:00:00;source=heredicare
chr13	32332465	1913	GA	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35100981	1903	CT	C	.	.	classification=3%2B;date=2022-06-14_00:00:00;source=heredicare
chr16	68819394	1895	G	C	.	.	classification=1;date=2020-11-10_00:00:00;source=heredicare
chr17	7673796	1885	C	T	.	.	classification=5;date=2023-05-09_00:00:00;source=heredicare
chr17	43057094	1876	GT	G	.	.	classification=5;source=heredicare
chr13	32319109	1875	G	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32362716	1874	C	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32379931	1872	T	G	.	.	classification=1;source=heredicare
chr13	32340789	1843	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr7	6003690	1835	C	G	.	.	classification=4;date=2019-01-08_00:00:00;source=heredicare
chr11	108227773	1834	C	G	.	.	classification=4;date=2023-03-28_00:00:00;source=heredicare
chr13	32379298	1814	A	G	.	.	classification=3;date=2021-01-12_00:00:00;source=heredicare
chr17	35103501	1804	G	C	.	.	classification=3%2B;date=2022-11-08_00:00:00;source=heredicare
chr17	43115792	1788	G	T	.	.	classification=2;date=2022-07-12_00:00:00;source=heredicare
chr17	7675086	1765	A	T	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr17	43093861	1743	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32340756	1678	ATAACT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338827	1670	TGAAA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32344651	1656	A	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr13	32398351	1655	C	T	.	.	classification=3;date=2016-12-08_00:00:00;source=heredicare
chr17	43115793	1651	G	A	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43091577	1646	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43104136	1633	C	T	.	.	classification=1;date=2015-07-10_00:00:00;source=heredicare
chr13	32356433	1586	AT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37007063	1559	G	A	.	.	classification=3;date=2021-09-14_00:00:00;source=heredicare
chr17	43094278	1545	T	TC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093102	1538	T	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr16	23637849	1524	C	A	.	.	classification=4;comment=;criteria=ClinGen_ACMG_PALB2_v1.1.0|4|PVS1+strong_pathogenic+ClinGen_PALB2:_PVS1_Decision_tree+selected$PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$PM5+supporting_pathogenic+Apply_to_splice_variants_as_PM5_supporting_for_splice_variants_can_only_be_applied_for_variants_premature_termination_codons_upstream_of_p.Tyr1183_where_PVS1_VS(RNA)_is_applied_based_on_high_quality_observed_splicing_impact_and_must_be_NMD_prone+selected;date=2024-11-12_11:22:06;scheme=ClinGen_ACMG_PALB2_v1.1.0;source=heredivar
chr17	43063347	1509	T	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092848	1477	GTTTC	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr8	89971232	1460	G	A	.	.	classification=3;date=2015-10-27_00:00:00;source=heredicare
chr13	32357752	1443	A	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PP4+supporting_pathogenic+Combined_LR_Score_2.58667_(PMID:_31853058)+selected$BP4+supporting_benign+BayesDel_no-AF_score:_-0.0180604_SpliceAI:_0+selected$BS1+supporting_benign+FAF_non-cancer_gAD_v2:_0.000085_(FAF_>_0.00002)+selected$BS3+strong_benign+Sahu:_benign_moderate_(PMID:_39779848)_/_Huang:_benign_strong_(PMID:_39779857)+selected;date=2025-09-09_11:15:57;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	35119613	1432	T	A	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Start_loss_variant_in_RAD51D_alternative_start_codon_at_position_16._But_many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PS1+medium_pathogenic+Many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PM2+supporting_pathogenic+Absent/rare_in_gnomAD_V3_and_V4+selected;date=2026-03-10_12:09:21;scheme=ACMG_SVI_adaptation;source=heredivar
chr16	23629775	1423	G	A	.	.	classification=2;date=2022-04-12_00:00:00;source=heredicare
chr17	43057112	1409	A	C	.	.	classification=4;date=2020-09-18_00:00:00;source=heredicare
chr13	32319282	1407	C	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28725237	1394	A	G	.	.	classification=3-;date=2022-12-06_00:00:00;source=heredicare
chr11	108284328	1370	T	C	.	.	classification=4;date=2018-07-10_00:00:00;source=heredicare
chr17	43049200	1366	A	C	.	.	classification=4;date=2017-02-09_00:00:00;source=heredicare
chr11	108292605	1338	T	A	.	.	classification=3;date=2019-06-11_00:00:00;source=heredicare
chr10	87864539	1328	G	C	.	.	classification=4;date=2022-01-18_00:00:00;source=heredicare
chr17	61859862	1323	G	C	.	.	classification=1;comment=;criteria=ACMG_SVI_adaptation|1|PP3+supporting_pathogenic+REVEL:_0.698%3B_BayesDEL:_0,257046%3B_phyloP100:_8.458+selected$BS1+strong_benign+gnomAD_NFE:_0.000411619+selected$BS2+strong_benign+5x_in_Flossies+selected;date=2024-12-10_11:14:32;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7669623	1304	GC	G	.	.	classification=4;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|5|PVS1+very_strong_pathogenic+Frameshift_induced_PTC_downstream_of_the_natural_stop_codon_/_decision_tree_PVS1_mod+selected$PS4+supporting_pathogenic+Li_Fraumeni_criteria:_1_point_+selected$PM2+supporting_pathogenic+gnomAD_v3/v4:_absent_+selected$PP1+supporting_pathogenic+Supporting:_3-4_meioses_in_1_family+selected;date=2026-02-21_15:53:20;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	35101226	1294	G	A	.	.	classification=3;date=2021-06-08_00:00:00;source=heredicare
chr13	32337841	1287	TG	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35101008	1277	A	T	.	.	classification=2;date=2020-03-10_00:00:00;source=heredicare
chr13	32357882	1273	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32337163	1259	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	43091784	1195	G	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|2|BP1+strong_benign+missense_variant_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1).+selected$BS1+supporting_benign+Filter_allele_frequency_(FAF)_is_above_0.002%_(FAF_>_0.00002)_and_less_than_or_equal_to_0.01%_(FAF_≤_0.0001)_in_gnomAD_v2.1_(non-cancer,_exome_only_subset)_and/or_gnomAD_v3.1_(non-cancer),_non-founder_population(s)._->_non-cancer_FAF:_0,004583%+selected;date=2026-02-10_11:51:37;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr17	43091579	1187	T	C	.	.	classification=2;date=2021-06-08_00:00:00;source=heredicare
chr13	32333283	1152	GA	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7675070	1146	C	T	.	.	classification=4;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|4|PS4+strong_pathogenic+11_x_patients_meeting_Chompret_criteria_(5.5_points)_+selected$PM1+medium_pathogenic+9_x_in_cancerhotspots_%3B_33x_in_Giacomelli_et_al.+selected$PM2+supporting_pathogenic+Grpmax_filtering_AF%1Y_0.001144%_(<0,003%_TP53_Guidelines_v2.2.0)_+selected$PP3+supporting_pathogenic+AGVGD:Class_C25,_BayesDel_0,2584+selected;date=2025-02-18_12:35:53;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr13	32339763	1144	CTG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7673560	1140	A	T	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr7	5999193	1101	C	T	.	.	classification=3;date=2016-08-11_00:00:00;source=heredicare
chr17	43104057	1095	CA	C	.	.	classification=1;source=heredicare
chr13	32370999	1084	A	G	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32338171	1083	G	GT	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43094190	1073	A	AC	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32340035	1043	T	TA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43071232	1022	G	A	.	.	classification=2;date=2017-02-15_00:00:00;source=heredicare
chr13	32363380	1016	TGCTGTTAAG	T	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr13	32354799	992	A	G	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr2	47805027	956	G	C	.	.	classification=3;date=2020-07-14_00:00:00;source=heredicare
chr17	7673777	885	GT	G	.	.	classification=4;date=2022-09-20_00:00:00;source=heredicare
chr17	43115744	883	C	T	.	.	classification=4;date=2015-03-06_00:00:00;source=heredicare
chr13	32356424	865	A	G	.	.	classification=1;date=2019-11-12_00:00:00;source=heredicare
chr17	43106508	849	G	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	7670636	797	T	A	.	.	classification=2;date=2020-09-16_00:00:00;source=heredicare
chr13	32344558	793	G	T	.	.	classification=3%2B;date=2021-05-11_00:00:00;source=heredicare
chr17	43074584	792	G	T	.	.	classification=1;source=heredicare
chr13	32340300	791	GT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093682	787	TAGA	T	.	.	classification=1;date=2020-09-18_00:00:00;source=heredicare
chr17	43093388	780	TA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43093615	753	A	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr11	108268427	752	G	T	.	.	classification=3;date=2019-08-27_00:00:00;source=heredicare
chr13	32338266	740	CT	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32370448	726	G	A	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|4|PS3+strong_pathogenic+LOF_in_HRD-Assay_(Richardson_et_al.,_(PMID:33609447)_Own_RNA-Analysis_in_patient_derived_blood_sample_revealed_biallelic_expression_of_variant_in_WT-transcript+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PP3+supporting_pathogenic+CADD:29.5_REVEL:_0.916_HCI_prior:0.81_BayesDEL:0.583972_spliceAI:BRCA2:_0.05+selected;date=2024-01-09_11:51:15;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr13	32332770	722	CAG	C	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32338613	706	G	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43082548	687	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr13	32340680	686	G	A	.	.	classification=2;date=2021-04-13_00:00:00;source=heredicare
chr17	7673782	676	T	C	.	.	classification=4;date=2020-07-14_00:00:00;source=heredicare
chr13	32332309	631	T	G	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	7674908	613	T	A	.	.	classification=4;date=2020-09-16_00:00:00;source=heredicare
chr17	7674263	605	A	G	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare
chr17	43063881	592	G	A	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr13	32363370	583	A	ATGGG	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	43092169	582	T	C	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr17	43124044	570	A	G	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.1.0|5|PS3+strong_pathogenic+Reported_by_three_calibrated_studies_to_exhibit_protein_function_similar_to_pathogenic_control_variants_(PMIDs:30209399,_30219179,_23867111)_(PS3_met)+selected$PM2+supporting_pathogenic+not_listed_in_gnomAD_v3.1_(non-cancer)+selected$PP3+supporting_pathogenic+RING_domain_and_BayesDel_0.3086_(_>%1Y0.28)+selected$PP4+very_strong_pathogenic+Combined_LR_Ratio_12162%3B_PMID:_31131967%3B_31853058+selected;date=2025-11-18_10:56:42;scheme=ClinGen_ENIGMA_BRCA1_v1.1.0;source=heredivar
chr10	87933090	546	T	C	.	.	classification=4;date=2020-08-18_00:00:00;source=heredicare
chr13	32340099	534	C	T	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	43123999	524	A	C	.	.	classification=1;source=heredicare
chr17	43094826	505	AT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32340624	503	A	C	.	.	classification=3;date=2010-04-30_00:00:00;source=heredicare
chr17	35101281	502	G	A	.	.	classification=3;date=2021-12-14_00:00:00;source=heredicare
chr17	43094021	488	GCTTTAATTTATTT	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr2	214745739	480	G	A	.	.	classification=3;date=2021-05-11_00:00:00;source=heredicare
chr13	32371010	463	GA	G	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr13	32398623	451	G	A	.	.	classification=1;date=2018-03-20_00:00:00;source=heredicare
chr17	61776526	440	G	A	.	.	classification=3;date=2023-03-28_00:00:00;source=heredicare
chr17	61744469	430	C	A	.	.	classification=2;date=2019-11-12_00:00:00;source=heredicare
chr17	43124027	409	ACT	A	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr17	35103546	407	T	C	.	.	classification=4;date=2016-12-08_00:00:00;source=heredicare
chr13	32332532	390	T	C	.	.	classification=3;date=2015-05-08_00:00:00;source=heredicare
chr13	32340810	383	C	T	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|2|PM2+supporting_pathogenic+absent_from_gnomAD_v2/3/4+selected$BP1+strong_benign+outside_a_(potentially)_clinically_important_functional_domain%3B_spliceAI:_0.01+selected;date=2025-05-13_11:21:19;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr16	68737423	378	C	G	.	.	classification=2;date=2021-01-12_00:00:00;source=heredicare
chr22	28725020	376	C	G	.	.	classification=3%2B;comment=;criteria=ACMG_SVI_adaptation|3|PS3+strong_pathogenic+Delimitsou_(2019,_PMID:_30851065):_damaging_Stolarova_(2023,_PMID:_37449874):_CHK2_%26_KAP1-assay:_damaging+selected$PP3+supporting_pathogenic+REVEL:_0.858_(SpliceAI_≤_0.1)+selected;date=2026-03-10_11:47:34;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	43094288	375	C	T	.	.	classification=2;date=2020-09-18_00:00:00;source=heredicare
chr22	28695731	364	A	C	.	.	classification=5;comment=;criteria=ACMG_SVI_adaptation|5|PVS1+very_strong_pathogenic+Truncating_prior_to__c.1493%3B_NMD_expected+selected$PM2+supporting_pathogenic+not_in_gnomAD_V2+selected$PM5+supporting_pathogenic+Truncating_prior_to__c.1493%3B_NMD_expected+selected;date=2024-08-13_12:29:26;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32339531	363	G	GA	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr3	37047640	348	A	G	.	.	classification=2;date=2020-02-18_00:00:00;source=heredicare
chr13	32363379	346	A	G	.	.	classification=4;date=2022-07-12_00:00:00;source=heredicare
chr2	47403319	345	A	G	.	.	classification=2;date=2021-12-17_00:00:00;source=heredicare
chr17	43071077	338	T	C	.	.	classification=1;date=2017-03-16_00:00:00;source=heredicare
chr17	7676119	322	C	T	.	.	classification=2;date=2021-02-09_00:00:00;source=heredicare
chr17	43076486	310	AC	A	.	.	classification=5;date=2016-03-10_00:00:00;source=heredicare
chr13	32326081	297	T	G	.	.	classification=1;source=heredicare
chr17	43091820	274	TA	T	.	.	classification=5;date=2010-04-30_00:00:00;source=heredicare
chr22	28695190	270	C	A	.	.	classification=3;comment=Results_from_functional_assays_as_well_as_predictions_are_contradictory;criteria=ACMG_standard|3|BS1+strong_benign+gnomAD_v3.1.2_(non-cancer):_AF:_0.0005092_%2B_1_x_hom+selected;date=2024-01-09_12:41:13;scheme=ACMG_standard;source=heredivar
chr22	28695232	266	A	G	.	.	classification=3;comment=widersprüchliche_funkt._Daten_siehe_Mail_Lisa_W._(Daten_einfügen);criteria=ACMG_SVI_adaptation|3|PS3+supporting_pathogenic+widersprüchliche_funkt._Daten+selected;date=2024-04-09_11:29:04;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32394716	263	A	T	.	.	classification=3%2B;date=2022-09-20_00:00:00;source=heredicare
chr13	32363369	262	G	A	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PS3+strong_pathogenic+Richardson_et_al._2021_Deleterious_in_HRD-Assay+selected$PM2+supporting_pathogenic+not_in_gnomAD_v3.1.2_non_cancer+selected$BP4+supporting_benign+BayesDel_0,159,_(BayesDel_no-AF_score_≤_0.18_AND_SpliceAI_≤0.1)+selected;date=2024-01-09_11:41:33;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr22	28695250	261	T	C	.	.	classification=4;comment=Splice_Prediction_positive,_Splice_effect_experimentally_proven_by_Kleiblova_et_al._2019;criteria=ACMG_standard|4|PS3+strong_pathogenic+Splice_effect_experimentally_proven_by_Kleiblova_et_al._2019_and_Ambry_Genetics+selected$PM2+supporting_pathogenic+Absent_from_gnomAD+selected$PP3+supporting_pathogenic+SpliceAI__Score_0.99+selected;date=2023-10-08_19:15:06;scheme=ACMG_standard;source=heredivar
chr22	28687961	260	CG	C	.	.	classification=3;comment=Frameshift_variant_in_the_last_exon_without_known_additional_PTVs_classified_as_Class_4/5;criteria=ACMG_standard|3|PVS1+supporting_pathogenic+Frameshift_variant_in_the_last_exon_without_known_additional_PTVs+selected$PM2+supporting_pathogenic+Not_in_gnomAD+selected;date=2023-10-18_14:17:08;scheme=ACMG_standard;source=heredivar
chr17	61684052	259	CTT	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+supporting_pathogenic+GC-HBOC_VCEP_(≥_c.2947_(p.983):_PVS1_SUP)+selected$PS4+supporting_pathogenic+Reported_in_the_literature_in_individuals_affected_with_Hereditary_Breast_And_Ovarian_Cancer_Syndrome_(Maxwell_2015_(PMID:_25503501),_Lilyquist_2017_(PMID:_28888541),_Nassar_2020_(PMID:_31844177)),_but_also_been_reported_in_an_unaffected_individual_with_a_family_history_of_breast_cancer_(Mersch_2018_(PMID:_30264118))_and_in_healthy_controls_(e.g._FLOSSIES_database)+selected;date=2025-12-09_11:22:00;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	61684052	258	CTTTG	C	.	.	classification=3;comment=;criteria=ACMG_SVI_adaptation|3|PVS1+supporting_pathogenic+ab_p.983_strength_supporting+selected;date=2026-01-13_11:56:09;scheme=ACMG_SVI_adaptation;source=heredivar
chr13	32336719	257	C	T	.	.	classification=1;comment=Silent_variant_outside_of_(potentially)_functional_domain_(Coldspot_variant,_ENIGMA_ClinGen_ACMG_Criteria)__splice_prediction_negative_(spliceAI_score_0.03)._cDNA_analysis_of_blood_derived_RNA_revealed_biallelic_expression_of_variant_in_Exon_11.__BP1_strong,_BP7_strong_(RNA);criteria=ACMG_standard|1|BP1+strong_benign+Silent_variant_outside_of_(potentially)_functional_domain_(Coldspot_variant,_ENIGMA_ClinGen_ACMG_Criteria)__splice_prediction_negative_(spliceAI_score_0.03).+selected$BP7+strong_benign+cDNA_analysis_of_blood_derived_RNA_revealed_biallelic_expression_of_variant_in_Exon_11+selected;date=2023-10-18_14:24:21;scheme=ACMG_standard;source=heredivar
chr16	68815611	256	G	A	.	.	classification=3-;comment=(BP4_Sup)_Additional_information_missing;criteria=ACMG_gene_specific:_CDH1|3|BP4+supporting_benign+Prediction_tools_mainly_predict_benign_effect_on_protein_function_(BP4_sup)+selected;date=2023-10-11_12:35:00;scheme=ACMG_gene_specific:_CDH1;source=heredivar
chr16	23638081	255	C	G	.	.	classification=2;comment=BP1%3B_BP4%3B_PM2_sup%3B_BS2_sup;criteria=ACMG_standard|2|PM2+supporting_pathogenic+Absent_from_gnomAD+selected$BP1+supporting_benign+True_missense_pathogenic_variants_in_PALB2_are_not_yet_confirmed_or_refuted_but_are_thought_to_be_exceedingly_rare+selected$BP4+supporting_benign+Splice_prediction_benign_+selected$BS3+supporting_benign+Own_RNA-Analysis_(blood_derived_RNA)_revealed_biallelic_expression_of_variant_in_WT-transcript_+selected;date=2024-01-08_10:33:11;scheme=ACMG_standard;source=heredivar
chr22	28725260	254	G	A	.	.	classification=4;comment=PS3,_PM2_sup,_PP3_sup;criteria=ACMG_standard|4|PS3+strong_pathogenic+Boonen_et_al._2022_und_Stolarova_et_al._2023_impaired_function+selected$PM2+supporting_pathogenic+Absent_from_NFE_in_gnomAD+selected$PP3+supporting_pathogenic+In_silico_prediction_mainly_damaging+selected;date=2023-10-11_13:47:14;scheme=ACMG_standard;source=heredivar
chr22	28725258	253	G	C	.	.	classification=3%2B;comment=PM2_sup,_PM5_sup,_PP3;criteria=ACMG_standard|3|PM2+supporting_pathogenic+Absent_from_gnomAD+selected$PM5+supporting_pathogenic+AS_position_seems_to_be_crucial_vor_protein_function_but_functional_data_for_this_variant_is_missing+selected$PP3+supporting_pathogenic+In_silico_prediction_mainly_loss_of_function+selected;date=2023-10-11_13:52:11;scheme=ACMG_standard;source=heredivar
chr13	32337665	252	A	C	.	.	classification=2;comment=Cold_spot_variant_outside_of_functional_domains_(ClinGen_ENIGMA_BRCA1/2_rules)_in_silico_prediction_benign_(BayesDel_no_AF-0.0862),_splice_AI_no_impact_(0.0)%3B_BP1_strong;criteria=ACMG_standard|3|BP1+strong_benign+Cold_spot_variant_outside_of_functional_domains_(ClinGen_ENIGMA_BRCA1/2_rules)_in_silico_prediction_benign_(BayesDel_no_AF-0.0862),_splice_AI_no_impact_(0.0)%3B_BP1_strong+selected;date=2023-10-19_08:29:26;scheme=ACMG_standard;source=heredivar
chr17	43070933	251	C	T	.	.	classification=3-;comment=PM2_sup_(not_in_gnomAD),_BS3_(Findlay_et_al._functional);criteria=ACMG_standard|3|PM2+supporting_pathogenic+Absent_from_gnomAD_(PM2_sup)+selected$BS3+strong_benign+Findlay_et_al._Functional+selected;date=2023-10-19_08:38:35;scheme=ACMG_standard;source=heredivar
chr16	23635545	250	T	C	.	.	classification=2;comment=BP1,_BP4,_BS1?;criteria=ACMG_standard|2|BP1+supporting_benign+Coldspot_region_outside_of_functional_important_regions+selected$BP4+supporting_benign+Aggregated_score_predicts_a_benign_effect+selected$BS1+supporting_benign+gnomAD_nonCancer_NFE_AF:_0.0001080+selected;date=2023-10-12_10:47:04;scheme=ACMG_standard;source=heredivar
chr13	32319286	249	T	C	.	.	classification=2;comment=Coldspot_variant_outside_(potentially)_relevant_functional_domain_(ClinGen_BRCA1/2_ACMG_Guidelines,_ENIGMA,_BP1_strong);criteria=ACMG_standard|3|BP1+strong_benign+Coldspot_variant_outside_(potentially)_relevant_functional_domain_(ClinGen_BRCA1/2_ACMG_Guidelines,_ENIGMA,_BP1_strong)+selected;date=2023-10-19_11:13:55;scheme=ACMG_standard;source=heredivar
chr17	43076617	248	T	C	.	.	classification=3%2B;comment=PM2_sup,_PP3_sup,_RNA-Analysis_required;criteria=ACMG_standard|3|PM2+supporting_pathogenic+Not_in_gnomAD+selected$PP3+supporting_pathogenic+spliceAI_score_DG_0.97_+selected;date=2023-10-12_11:07:51;scheme=ACMG_standard;source=heredivar
chr17	7675089	247	G	A	.	.	classification=3;comment=PM1,_PP3_mod,_PS4_sup,_BS2sup,_BS3sup,_See_ClinVar_ClinGen_TP53_Variant_Curation_Expert_Panel_classification_(Class_3);criteria=ACMG_gene_specific:_TP53|2|PS4+supporting_pathogenic+This_variant_has_been_reported_in_2_probands_meeting_Revised_Chompret_criteria_(PS4_Supporting%3B_PMID:_31119730,_internal_laboratory_contributor(SCV000903055.2+selected$PM1+medium_pathogenic+This_variant_is_within_a_codon_that_is_an_established_hotspot_in_the_TP53_gene_(PM1)+selected$PP3+medium_pathogenic+BayesDel_score_>_0.16_and_Align_GVGD_(Zebrafish)_is_Class_65+selected$BS2+supporting_benign+This_variant_has_been_observed_in_5_60%2B_year_old_females_without_a_cancer_diagnosis_(BS2_Supporting%3B_internal_laboratory_contributor,_SCV000833097.4)._+selected$BS3+supporting_benign+Transactivation_assays_show_partially_functional_variant_according_to_Kato,_et_al._and_there_is_no_evidence_of_a_dominant_negative_effect_or_loss_of_function_according_to_Giacomelli,_et_al._(BS3_Supporting)+selected;date=2023-10-12_11:45:05;scheme=ACMG_gene_specific:_TP53;source=heredivar
chr13	32344608	246	G	GA	.	.	classification=5;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|5|PVS1+very_strong_pathogenic+Null_variant_(nonsense,_frameshift,_splice_site_(donor/acceptor_%2B/−1,2),_initiation_codon,__single_or_multi-exon_deletion)_in_a_gene_where_loss_of_function_(LOF)_is_a_known__mechanism_of_disease._Table_4+selected$PM2+supporting_pathogenic+absent_from_GnomAD_v4.1.0+selected$PM3+supporting_pathogenic+PMID:_38658784_-_4_year_old_boy_with_FA_and_pathogenic_Variant_in_trans+selected;date=2025-11-18_11:22:30;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr17	43094690	245	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)_spliceAI_no_impact_predicted_(0.0),+selected;date=2024-05-28_16:34:00;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr22	28695800	244	T	C	.	.	classification=4;comment=Located_in_Kinase_domain,_Loss_of_function_in_both_assays_applied_by_Stolarova_et_al._as_well_as_in_Boonen_et_al._2022,PS3,_Prediction_deleterious_PP3_sup,_not_in_gnomAD_PM2_sup;criteria=ACMG_standard|4|PS3+strong_pathogenic+Loss_of_function_in_Stolarova_et_al._2023,_Boonen_et_al._2021_and_Wang_et_al._2015+selected$PM2+supporting_pathogenic+Not_in_gnomAD+selected$PP3+supporting_pathogenic+In_silico_prediction_deleterious+selected;date=2023-10-12_08:40:39;scheme=ACMG_standard;source=heredivar
chr22	28725341	243	C	T	.	.	classification=4;comment=Located_in_FHA_domain,_Loss_of_function_in_both_assays_applied_by_Stolarova_et_al.,PS3,_Prediction_deleterious_PP3_sup,_not_in_gnomAD_PM2_sup;criteria=ACMG_standard|4|PS3+strong_pathogenic+Stolarova_et._al._loss_of_function+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PP3+supporting_pathogenic+Prediction_mainly_deleterious+selected;date=2023-10-12_08:20:19;scheme=ACMG_standard;source=heredivar
chr17	7670669	242	GC	G	.	.	classification=4;comment=PVS1_strong,_PS3_sup,_PM2_sup__Frameshift-variant_which_affects_oligomerization_domain_and_CTD._More_c-terminal_variants_are_classified_pathogenic_in_Penkert_et_al.,_p.Ala347Pro_shows_only_11.3%_of_wild-type_Transcriptional_activity_in_yeast_(Kato_et_al.);criteria=ACMG_gene_specific:_TP53|4|PVS1+strong_pathogenic+Frameshift_variant_which_affects_oligomerziation_domain+selected$PS3+supporting_pathogenic+p.Ala347Pro_shows_only_11.3%_of_wild-type_Transcriptional_activity_in_yeast_(Kato_et_al.)+selected$PM2+supporting_pathogenic+Absent_from_controls+selected;date=2023-10-12_08:02:31;scheme=ACMG_gene_specific:_TP53;source=heredivar
chr17	61781008	240	A	G	.	.	classification=2;comment=BP4,_BP6;criteria=ACMG_standard|2|BP4+supporting_benign+Splice_AI:_acceptor_loss:_0.01___Alamut:_2/4_acceptor_strengthening%3B_2/4_no_effect+selected$BP6+supporting_benign+ClinVar:_4xVUS,_4x_likely_benign,_1x_benign_/_Ambry_2019:_likely_benign_(is_classified_as_likely_benign_based_on_a_combination_of_the_following:_...,_RNA_analysis,_…)+selected;date=2023-10-12_10:32:46;scheme=ACMG_standard;source=heredivar
chr17	43093138	239	G	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(SpliceAI_≤0.1)+selected$BS3+strong_benign+Bouwman_et_al,_2013:_neutral_%3B_Bouwman_et_al,_2020:_neutral+selected;date=2024-05-28_16:27:46;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr17	43051113	238	A	G	.	.	classification=4;comment=PS3,_PM2_supporting,_PP3;criteria=ACMG_standard|4|PS3+strong_pathogenic+Findlay_et_al.,_2018:_LOF%3B_Fernandes_et_al.,_2019:_fclass_5%3B_Lee_et_al.,_2010:_strong_functional_effect+selected$PM2+supporting_pathogenic+absent_from_controls+selected$PP3+supporting_pathogenic+REVEL:_0.872_%3B_PRIOR:_0.66+selected;date=2023-10-12_10:11:05;scheme=ACMG_standard;source=heredivar
chr13	32356496	237	C	T	.	.	classification=1;comment=(BA1,_BS3,_BP4_strong);criteria=ACMG_standard|1|BP4+strong_benign+Bayes_Del_noAF_(-0.0527)+selected$BS3+strong_benign+Richardson_et_al.,_2021:_neutral_/_final_classification:_benign_(BA1,_BS3,_BP4_strong)+selected$BA1+stand-alone_benign+gnomAD:_AF_AFR:_0.003065+selected;date=2023-10-19_09:03:24;scheme=ACMG_standard;source=heredivar
chr17	7675989	226	C	T	.	.	classification=4;comment=;criteria=ClinGen_ACMG_TP53_v1.4.0|4|PVS1+very_strong_pathogenic+RNA-Analysis_(internal_Tübingen)%3B_ClinVar_(MutSpliceDB:_a_database_of_splice_sites_variants_effects_on_splicing,_NIH)_and_PMID:_34505757_reveal_splicing_effects_for_c.375%2B5G_mutations.+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-11-12_11:34:45;scheme=ClinGen_ACMG_TP53_v1.4.0;source=heredivar
chr17	58695179	220	A	C	.	.	classification=4;comment=Prakash_et_al_2022_HRD;criteria=ACMG_standard|4|PS3+strong_pathogenic+RAD51C–T132P_showed_little_or_no_HR_activity_Sullivan_et_al,_2021_(PMID:33832919_)_and_HR_deficient_in_Prakash_et_al_2022_(PMID:_36099300)+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PP3+supporting_pathogenic+CADD:27.0_REVEL:_0.927_BayesDEL:0.418575+selected;date=2024-01-05_15:01:52;scheme=ACMG_standard;source=heredivar
chr11	108271414	219	C	G	.	.	classification=2;comment=intronic_variant_splice_prediction_negative;criteria=ACMG_standard|3|BP4+supporting_benign+spliceAI:_ATM:_0.0+selected;date=2024-01-05_12:36:40;scheme=ACMG_standard;source=heredivar
chr13	32379872	218	C	G	.	.	classification=3-;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|BP4+supporting_benign+BayesDEL:0.00500399_and_spliceAI:_BRCA2:_0.07+selected;date=2024-01-05_13:14:45;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	43063361	217	G	T	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|4|PS3+strong_pathogenic+LOF_in_Findlay_GM_et_al._Nature,_2018_10%3B562:217-222,_Petitalot_A_et_al._Mol._Cancer_Res.,_2019_01%3B17:54-69+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PP1+supporting_pathogenic+Parsons_et_al._Segregation_LR_4.84_(PP1_mod)+selected;date=2024-01-05_14:33:41;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr11	108312467	216	A	C	.	.	classification=2;comment=Homozygous_in_healthy_individual;criteria=ACMG_standard|2|PM2+supporting_pathogenic+Absent_from_controls_(PM2_sup)+selected$BP4+supporting_benign+REVEL:_0.256__BayesDEL:-0.143455+selected$BS2+strong_benign+1x_homozygous_in_gnomAD_(Ashkenazi_Jewish),_in_Tübingen:_NGSD_counts:_1x_hom,_30x_het,_0x_mosaic_(homozygous:_healthy_mother_in_exom_trio_for_other_disease)__+selected;date=2024-01-05_12:44:04;scheme=ACMG_standard;source=heredivar
chr11	108252839	215	G	A	.	.	classification=3-;comment=Not_in_functional_domain,_no_functional_data_available;criteria=ACMG_standard|2|PM2+supporting_pathogenic+Absent_from_controls+selected$BP1+supporting_benign+Not_in_functional_domain_cold_spot_VUS+selected$BP4+supporting_benign+REVEL:_0.275_+selected;date=2024-01-05_12:28:06;scheme=ACMG_standard;source=heredivar
chr11	108330381	214	T	G	.	.	classification=2;comment=PP3_not_conflicting_to_BS3!!!;criteria=ClinGen_ACMG_ATM_v1.3.0|2|PP3+supporting_pathogenic+REVEL:0.822+selected$BS3+medium_benign+Hanenberg_2025%3B_BS3-mod_nach_letztem_VUS-Taskfoce_beschluss_wegen_Andreassen%3B_reicht_1_mod_als_"stand_alone"_für_LB?+selected;date=2025-08-12_12:22:12;scheme=ClinGen_ACMG_ATM_v1.3.0;source=heredivar
chr17	43057110	213	A	C	.	.	classification=3-;comment=PM2_sup,_PP3_sup,_BS3;criteria=ACMG_standard|3|PM2+supporting_pathogenic+Absent_from_controls+selected$PP3+supporting_pathogenic+Multiple_lines_of_computational_evidence_support_a_deleterious_effect+selected$BS3+strong_benign+Functional_in_Findlay_et_al.+selected;date=2024-01-05_14:26:32;scheme=ACMG_standard;source=heredivar
chr17	35119612	212	A	C	.	.	classification=4;comment=;criteria=ACMG_SVI_adaptation|4|PVS1+strong_pathogenic+Start_loss_variant_in_RAD51D_alternative_start_codon_at_position_16._But_many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PS1+medium_pathogenic+Many_pathogenic_variants_discribed_in_ovarian_cancer_patients_within_the_first_15_amino_acids.+selected$PM2+supporting_pathogenic+absent/rare_in_gnomAD_V3_and_V4+selected;date=2026-02-21_13:52:13;scheme=ACMG_SVI_adaptation;source=heredivar
chr17	7676080	211	CAGA	C	.	.	classification=3;comment=Repeat_of_3_Serin_residues,_effect_unknown;criteria=ACMG_gene_specific:_TP53|3|PM2+supporting_pathogenic+absent_from_controls+selected;date=2023-07-17_14:28:47;scheme=ACMG_gene_specific:_TP53;source=heredivar
chr13	32319188	210	A	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:_BRCA2:_0.0)+selected;date=2024-01-05_12:49:45;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	35118562	209	C	T	.	.	classification=3;comment=PS3_sup,_PM1;criteria=ACMG_standard|3|PS3+supporting_pathogenic+Bueno-Martínez_(2021):_complete_aberrant_splicing_pattern_without_the_full_length_transcript+selected$PM1+medium_pathogenic+N-terminal_domain+selected;date=2024-01-05_14:13:33;scheme=ACMG_standard;source=heredivar
chr13	32338670	208	G	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:_BRCA2:_0.0)_+selected;date=2024-01-05_12:53:08;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	43057077	207	C	G	.	.	classification=4;comment=PS3,_PM1,_PMS2_sup,_PP3;criteria=ACMG_standard|4|PS3+strong_pathogenic+Findley_2018:_LOF,_Woods_2016/Fernandes_2019:_func._class_5,_Lee_2010:_strong_functional_effect,_...+selected$PM1+medium_pathogenic+in_BRCT_Domain+selected$PM2+supporting_pathogenic+absent_from_controls+selected$PP3+supporting_pathogenic+PRIOR:_0.66%3B_REVEL:_0.719+selected;date=2023-07-17_14:20:58;scheme=ACMG_standard;source=heredivar
chr2	214752562	206	A	C	.	.	classification=3;comment=PS3_sup,_PM2_sup,_PP3_sup;criteria=ACMG_standard|3|PS3+supporting_pathogenic+Own_RNA-Analysis_show_enhanced_skipping_of_Exon_7_(no_quantification)+selected$PM2+supporting_pathogenic+absent_from_controls+selected$PP3+supporting_pathogenic+spliceAI:_BARD1:_0.66_+selected;date=2024-01-05_12:24:23;scheme=ACMG_standard;source=heredivar
chr17	43082529	205	A	G	.	.	classification=4;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|4|PS3+strong_pathogenic+Functional_analysis:_neutral_in_Cisplatin/Olaparib_Response_(Bouwman_2013/20),_but_PALB2-interaction_und_HR_activity_depleted_(Sy_2009_(PMID:_19369211)%3B_Woods_2016_(PMID:_28781887)%3B_Anantha_2017_(PMID:_28398198)%3B_Carvalho_2014_(PMID:_24845084)+selected$PM2+supporting_pathogenic+not_in_gnomAD_v3.1.2_(non_cancer)_(PM2_sup)+selected$PP1+supporting_pathogenic+This_alteration_has_been_observed_in_multiple_families_with_a_strong_family_history_of_breast_and_ovarian_cancer_and_has_been_observed_to_segregate_with_disease_(Malander_S_et_al._Eur._J._Cancer._2004_Feb%3B40:422-8_and_Ambry_Genetics_internal_data)_PP1_mod+selected$BP4+supporting_benign+BayesDel_0.014+selected;date=2024-05-28_16:20:24;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr2	214781215	202	A	G	.	.	classification=2;date=2023-05-09_00:00:00;source=heredicare
chr11	108330296	201	T	C	.	.	classification=2;date=2022-09-20_00:00:00;source=heredicare
chr17	43099794	198	C	T	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:_BRCA1:_0.01)+selected;date=2024-01-08_13:50:18;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr17	43091850	197	T	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:_BRCA1:_0.01)+selected;date=2024-05-28_16:22:05;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr17	43093791	196	G	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:_BRCA1:0.0)+selected;date=2024-05-28_16:29:12;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr17	43094299	195	T	A	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|2|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP1+strong_benign+_BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:_BRCA1:_0.0)+selected;date=2024-05-28_16:32:09;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr3	37020438	194	A	G	.	.	classification=2;comment=;criteria=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0|1|BP4+supporting_benign+HCI-prior_probability_of_pathogenicity_<0.11+selected$BS1+strong_benign+gnomADv4_Grpmax_FAF_von_>0.01%_in_NFE+selected$BS3+supporting_benign+Functional_Assay_show_no_impact_on_protein_function+selected;date=2024-09-09_15:26:58;scheme=ClinGen_InSiGHT_ACMG_MLH1_v1.0.0;source=heredivar
chr17	43051118	193	C	T	.	.	classification=5;comment=PVS1_RNA%3B_PM2_sup%3B;criteria=ClinGen_ENIGMA_BRCA1_v1.0.0|5|PVS1+very_strong_pathogenic+PVS1_(RNA)_+selected$PS3+strong_pathogenic+Intronic_variant,_functional_data_considered_only_from_assays_that_measure_effect_via_mRNA_and_protein._Reported_by_one_calibrated_study_incorporating_mRNA_splicing_effects_to_affect_protein_function_similar_to_pathogenic_control_variants_(PMID:30209399)_(PS3_met).+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected;date=2024-01-08_13:38:21;scheme=ClinGen_ENIGMA_BRCA1_v1.0.0;source=heredivar
chr11	108253989	192	C	T	.	.	classification=2;comment=ATM_specific:_AGVGD_Class0,_SIFT:_Tolerated,_outside_of_FATKIN-domain,_Found_in_trans_with_ATM_frameshift_variant_in_a_70_year_old_patient_without_signs_of_AT;criteria=ACMG_standard|2|BP4+supporting_benign+BP4_(ClinGen_Interpretation_Guidelines_for_ATM_Version_1.1:_REVEL_score_<.249)+selected$BS2+strong_benign+Found_in_trans_with_ATM_frameshift_variant_in_a_70_year_old_patient_without_signs_of_AT+selected;date=2024-01-08_12:07:12;scheme=ACMG_standard;source=heredivar
chr17	58692652	191	G	C	.	.	classification=2;comment=rare_silent_variant,_splice_prediction_negative,;criteria=ACMG_standard|2|PM2+supporting_pathogenic+PM2_sup%3B_<0,01%_gnomAD+selected$BP4+supporting_benign+BP4_(Splice_predictions:_No_predicted_impact)+selected$BP7+supporting_benign+BP7_(Splice_predictions:_No_predicted_impact%3B_nucleotide_is_not_highly_conserved)+selected;date=2024-01-08_13:52:56;scheme=ACMG_standard;source=heredivar
chr13	32339283	190	T	C	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:BRCA2:0.0)+selected;date=2024-01-08_13:14:04;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr13	32363210	189	T	C	.	.	classification=3%2B;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|3|PM2+supporting_pathogenic+not_in_gnomAD+selected$BP4+supporting_benign+HCI_prior:0.03_BayesDEL:-0.0909533+selected;date=2024-01-08_13:19:31;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr11	108304673	188	A	C	.	.	classification=5;comment=Found_compound_heterozygous_in_AT_patient;criteria=ACMG_standard|5|PVS1+very_strong_pathogenic+ClinGen_Interpretation_Guidelines_for_ATM_Version_1.1:_PVS1_very_strong_[experimental_data_for_NMD_(list_A)]__The_c.5497-2A>C_intronic_pathogenic_mutation_results_from_an_A_to_C_substitution_two_nucleotides_upstream_from_coding_exon_36_in_the_ATM_gene+selected$PS3+strong_pathogenic+RNA_studies_have_demonstrated_that_this_alteration_results_in_abnormal_splicing_in_the_set_of_samples_tested_(Casadei_S_et_al._Proc._Natl._Acad._Sci._U.S.A.,_2019_Dec,_Teraoka_et_al._Am._J._Hum._Genet._1999_Jun%3B64(6):1617-31,_and_Ambry_Genetics_internal_data).+selected$PM2+supporting_pathogenic+ClinGen_Interpretation_Guidelines_for_ATM_Version_1.1:_PM2_supporting_[absent/rare_from_controls]+selected;date=2024-01-08_12:10:06;scheme=ACMG_standard;source=heredivar
chr17	35101308	187	G	A	.	.	classification=3;comment=Contradictory_data:_In_GC-HBOC_centers_also_frequently_found_in_non_HBOC_cases._In_Cologne_found_16X_in_27.000_HBOC_cases._In_gnomAD_found_16X_in_75.000_NFEs_and_26X_in_15.000_SAS._Own_functional_analysis_(unpublished)_revealed_damaging_effect_and_LOH_and_Segregation_in_a_family_In_Dorling_et_al._found_6X_in_60466_BC_cases_and_2X_in_53461_nonBC_controls.;criteria=ACMG_standard|3|PS3+supporting_pathogenic+Own_functional_analysis_(unpublished)_revealed_damaging_effect_and_LOH_and_Segregation_in_a_family+selected$BS1+supporting_benign+contradictory_data:_In_GC-HBOC_centers_also_frequently_found_in_non_HBOC_cases._In_Cologne_found_16X_in_27.000_HBOC_cases._In_gnomAD_found_16X_in_75.000_NFEs_and_26X_in_15.000_SAS._In_Dorling_et_al._found_6X_in_60466_BC_cases_and_2X_in_53461_nonBC_controls._+selected;date=2023-10-11_13:05:52;scheme=ACMG_standard;source=heredivar
chr13	32337573	186	A	G	.	.	classification=2;comment=;criteria=ClinGen_ENIGMA_BRCA2_v1.0.0|2|BP1+strong_benign+BP1_Strong_for_silent_substitution,_missense_or_in-frame_insertion,_deletion_or_delins_variants_outside_a_(potentially)_clinically_important_functional_domain_AND_no_splicing_predicted_(spliceAI:_BRCA2:_0.0)+selected;date=2024-01-08_13:11:41;scheme=ClinGen_ENIGMA_BRCA2_v1.0.0;source=heredivar
chr17	61683795	185	G	GT	.	.	classification=3%2B;comment=Class_3_Tendenz_4_Effekt_von_Varianten_in_den_letzten_beiden_Exons_von_BRIP1_unklar._Funktionelle_Test_von_Arne_Needergard_zeigen_keinen_Funktionsverlust_(PARPi_und_Cisplatin_Sensitivität);criteria=ACMG_standard|3|PVS1+very_strong_pathogenic+FS-Variant_im_letzten_Exon+selected$PM2+supporting_pathogenic+PM2_supporting+selected;date=2023-07-14_11:59:00;scheme=ACMG_standard;source=heredivar
chr17	35107366	184	C	T	.	.	classification=3;comment=Own_splice_analysis_not_quantitative._Quantitative_splice_analysis_and_segregation_data_needed.;criteria=ACMG_standard|4|PS3+strong_pathogenic+Enhanced_skipping_of_exon_4_in_RNA-analysis._Quantification_not_possible.+selected$PM2+supporting_pathogenic+not_in_gnomAD+selected$PP3+supporting_pathogenic+PP3_(spliceAI:_RAD51D:_0.9)+selected;date=2024-01-08_13:28:11;scheme=ACMG_standard;source=heredivar
chr11	108310287	181	A	G	.	.	classification=3-;comment=1xhomozygot_in_gnomAD_(others);criteria=ACMG_standard|3|BP4+supporting_benign+ClinGen_Interpretation_Guidelines_for_ATM_Version_1.1:_BP4_(REVEL_score_<.249)+selected;date=2023-07-14_12:08:54;scheme=ACMG_standard;source=heredivar
chr13	32363189	179	G	A	.	.	classification=4;comment=1x_in_gAD_v2_non-cancer_(male);criteria=ClinGen_ENIGMA_BRCA2_v1.1.0|4|PS3+strong_pathogenic+Sahu_et_al._and_Huang_et_al._pathogenic_(PMID:_PMID:_39779848,_39779857)+selected$PM2+supporting_pathogenic+1x_in_gAD_v2_non-cancer+selected$PP3+supporting_pathogenic+BayesDel_no_AF:_0.315358+selected;date=2025-09-09_11:23:28;scheme=ClinGen_ENIGMA_BRCA2_v1.1.0;source=heredivar
chr13	32380044	178	G	A	.	.	classification=1;date=2010-04-30_00:00:00;source=heredicare
chr17	7674221	174	G	A	.	.	classification=5;date=2020-09-16_00:00:00;source=heredicare