Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358087
rs80358087
BRCA1
A 0.700 CausalMutation CLINVAR Accurate classification of BRCA1 variants with saturation genome editing. 30209399

2018
dbSNP: rs80358094
rs80358094
BRCA1
T 0.700 GeneticVariation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80358094
rs80358094
BRCA1
T 0.700 GeneticVariation 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: rs80358108
rs80358108
BRCA1
C 0.700 GeneticVariation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. 30093976

2018
dbSNP: rs80358173
rs80358173
BRCA1
T 0.700 CausalMutation CLINVAR Accurate classification of BRCA1 variants with saturation genome editing. 30209399

2018
dbSNP: rs876659327
rs876659327
BRCA1
TC 0.700 CausalMutation CLINVAR High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients. 29297111

2018
dbSNP: rs886039990
rs886039990
BRCA1
AT 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs1555593195
rs1555593195
BRCA1
C 0.700 CausalMutation CLINVAR The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. 28294317

2017
dbSNP: rs1567796243
rs1567796243
BRCA1
T 0.700 GeneticVariation CLINVAR Comprehensive profiling of metaplastic breast carcinomas reveals frequent overexpression of programmed death-ligand 1. 27531819

2017
dbSNP: rs1567811070
rs1567811070
BRCA1
T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs387906563
rs387906563
BRCA1
GCCACATGGCT 0.700 CausalMutation CLINVAR Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer. 28503720

2017
dbSNP: rs397509211
rs397509211
BRCA1
T 0.700 GeneticVariation CLINVAR Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 28873162

2017
dbSNP: rs398122636
rs398122636
BRCA1
TA 0.700 CausalMutation CLINVAR Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. 28111427

2017
dbSNP: rs398122670
rs398122670
BRCA1
GGA 0.700 CausalMutation CLINVAR Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. 28127413

2017
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. 27495310

2017
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652

2017
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652

2017
dbSNP: rs55770810
rs55770810
BRCA1
A 0.700 CausalMutation CLINVAR "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer." 28265380

2017
dbSNP: rs80356959
rs80356959
BRCA1
G 0.700 CausalMutation CLINVAR Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. 28111427

2017
dbSNP: rs80356959
rs80356959
BRCA1
G 0.700 CausalMutation CLINVAR Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations. 28263838

2017
dbSNP: rs80356959
rs80356959
BRCA1
G 0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 GeneticVariation CLINVAR Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer. 28944232

2017
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. 27495310

2017
dbSNP: rs80357150
rs80357150
BRCA1
T 0.700 CausalMutation CLINVAR Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers. 29255180

2017