Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. 21447777

2011

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. 17851763

2008

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420

2007

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain. 16528612

2006

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR Classification of BRCA1 missense variants of unknown clinical significance. 15689452

2005

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. 11389159

2001

dbSNP: rs80357074
rs80357074
G 0.700 GeneticVariation CLINVAR Marker segregation information in breast/ovarian cancer genetic counseling: is it still useful? Groupe Génétique et Cancer de la Fédération Nationale des Centres de Lutte Contre le Cancer. 9788557

1998