Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR BRCA1 tumour suppression occurs via heterochromatin-mediated silencing. 21901007

2011
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Characterization of BRCA1 ring finger variants of uncertain significance. 19543972

2010
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620

2010
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women. 15983021

2006
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. 16403807

2006
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001
dbSNP: rs80356880
rs80356880
BRCA1
C 0.700 GeneticVariation CLINVAR Structure of a BRCA1-BARD1 heterodimeric RING-RING complex. 11573085

2001