Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. 11385711

2001
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. 11106241

2000
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases. 10389907

1999
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families. 10508480

1999
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151

1997
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? 9042907

1997
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683

1996
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Germline mutation of BRCA1 in Japanese breast cancer families. 7627958

1995
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994
dbSNP: rs886039981
rs886039981
BRCA1
A 0.710 CausalMutation CLINVAR

dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk. 30257991

2019
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls. 31341520

2019
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. 31347298

2019
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 30765603

2019
dbSNP: rs80357132
rs80357132
BRCA1
G 0.700 GeneticVariation CLINVAR Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 30765603

2019
dbSNP: rs80358108
rs80358108
BRCA1
C 0.700 GeneticVariation CLINVAR Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells. 30736279

2019
dbSNP: rs142074233
rs142074233
BRCA1
A 0.700 CausalMutation CLINVAR BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. 30078507

2018
dbSNP: rs273901754
rs273901754
BRCA1
A 0.700 GeneticVariation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs397507241
rs397507241
BRCA1
T 0.700 CausalMutation CLINVAR Accurate classification of BRCA1 variants with saturation genome editing. 30209399

2018
dbSNP: rs397507241
rs397507241
BRCA1
T 0.700 CausalMutation CLINVAR Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. 29470806

2018
dbSNP: rs397508902
rs397508902
BRCA1
A 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs397509164
rs397509164
BRCA1
GTTCT 0.700 CausalMutation CLINVAR Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers. 29673794

2018
dbSNP: rs398122685
rs398122685
BRCA1
A 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018