Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. 28781887

2016
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. 24249303

2015
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families. 23842040

2013
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR BRCT domains: phosphopeptide binding and signaling modules. 18508631

2008
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. 19016756

2008
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420

2007
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain. 16528612

2006
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Classification of BRCA1 missense variants of unknown clinical significance. 15689452

2005
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Solution structure, backbone dynamics, and association behavior of the C-terminal BRCT domain from the breast cancer-associated protein BRCA1. 15609993

2004
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. 15133503

2004
dbSNP: rs80357258
rs80357258
BRCA1
C 0.700 GeneticVariation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003