Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population. 26833046

2016

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. 24489791

2014

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. 25348012

2014

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. 21990165

2012

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273

2011

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR Characterization of BRCA1 ring finger variants of uncertain significance. 19543972

2010

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer. 20437199

2010

dbSNP: rs80357327
rs80357327
T 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: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. 18465347

2008

dbSNP: rs80357327
rs80357327
T 0.700 CausalMutation CLINVAR Structure of a BRCA1-BARD1 heterodimeric RING-RING complex. 11573085

2001