Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358650
rs80358650
BRCA2
A 0.700 CausalMutation CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967

2019
dbSNP: rs80358650
rs80358650
BRCA2
A 0.700 CausalMutation CLINVAR BRCA1/2 missense mutations and the value of in-silico analyses. 28807866

2017
dbSNP: rs80358650
rs80358650
BRCA2
A 0.700 CausalMutation CLINVAR Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. 26913838

2016
dbSNP: rs80358650
rs80358650
BRCA2
A 0.700 CausalMutation CLINVAR Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. 24302565

2015
dbSNP: rs80358650
rs80358650
BRCA2
A 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. 21769658

2012
dbSNP: rs80358650
rs80358650
BRCA2
A 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: rs80358650
rs80358650
BRCA2
A 0.700 CausalMutation CLINVAR Variation of breast cancer risk among BRCA1/2 carriers. 18182601

2008
dbSNP: rs80358650
rs80358650
BRCA2
T 0.700 CausalMutation CLINVAR