Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. 27836010

2016
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR Familial breast cancer genetic testing in the West of Ireland. 23884708

2014
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028

2014
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639

2012
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010
dbSNP: rs80356991
rs80356991
BRCA1
A 0.700 CausalMutation CLINVAR The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792

2002