Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening. 23397983

2014
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. 23192404

2013
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. 22034289

2012
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation 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: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection. 19949876

2010
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg). 19287957

2009
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Classification of Missense Mutations of Disease Genes. 18418466

2005
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR MYC is amplified in BRCA1-associated breast cancers. 14760071

2004
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect. 15131401

2004
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions. 11526114

2001
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Low frequency of microsatellite instability in BRCA1 mutated breast tumours. 11015464

2000
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Identification of a RING protein that can interact in vivo with the BRCA1 gene product. 8944023

1996
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994