Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. 28781887

2016
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 27741520

2016
dbSNP: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation CLINVAR Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. 27914478

2016
dbSNP: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation CLINVAR A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. 26287763

2015
dbSNP: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation CLINVAR The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches. 25896959

2015
dbSNP: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation CLINVAR Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families. 24607278

2014
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. 23633455

2013
dbSNP: rs80357389
rs80357389
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: rs80357389
rs80357389
BRCA1
A 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: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. 22711857

2012
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012
dbSNP: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. 23096355

2012
dbSNP: rs80357389
rs80357389
BRCA1
A 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: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation 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: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation CLINVAR Molecular and in silico analysis of BRCA1 and BRCA2 variants. 18694767

2008
dbSNP: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007
dbSNP: rs80357389
rs80357389
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: rs80357389
rs80357389
BRCA1
A 0.700 CausalMutation CLINVAR Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model. 12915465

2003
dbSNP: rs80357389
rs80357389
BRCA1
G 0.700 CausalMutation CLINVAR