Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358086
rs80358086
BRCA1
C 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: rs80358086
rs80358086
BRCA1
C 0.700 GeneticVariation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014
dbSNP: rs80358086
rs80358086
BRCA1
C 0.700 GeneticVariation CLINVAR Earlier age of onset of BRCA mutation-related cancers in subsequent generations. 21913181

2012
dbSNP: rs80358086
rs80358086
BRCA1
C 0.700 GeneticVariation CLINVAR Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. 22160602

2012
dbSNP: rs80358086
rs80358086
BRCA1
G 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: rs80358086
rs80358086
BRCA1
G 0.700 GeneticVariation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80358086
rs80358086
BRCA1
G 0.700 GeneticVariation CLINVAR EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. 21120943

2011
dbSNP: rs80358086
rs80358086
BRCA1
G 0.700 GeneticVariation CLINVAR The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. 18703817

2008
dbSNP: rs80358086
rs80358086
BRCA1
C 0.700 GeneticVariation CLINVAR Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. 16619214

2006
dbSNP: rs80358086
rs80358086
BRCA1
C 0.700 GeneticVariation 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: rs80358086
rs80358086
BRCA1
C 0.700 GeneticVariation CLINVAR Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. 11179017

2001
dbSNP: rs80358086
rs80358086
BRCA1
G 0.700 CausalMutation CLINVAR