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rs80358557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358557(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337464
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358557
ebirs80358557
HLIrs80358557
Exacrs80358557
Varsomers80358557
Maprs80358557
PheGenIrs80358557
hapmaprs80358557
1000 genomesrs80358557
hgdprs80358557
ensemblrs80358557
gopubmedrs80358557
geneviewrs80358557
scholarrs80358557
googlers80358557
pharmgkbrs80358557
gwascentralrs80358557
openSNPrs80358557
23andMers80358557
23andMe allrs80358557
SNP Nexus

SNPshotrs80358557
SNPdbers80358557
MSV3drs80358557
GWAS Ctlgrs80358557
Max Magnitude6
rs80358557, also known as Q1037X, c.3109C>T and p.Gln1037Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358557(T;T)
Alt rs80358557(T;T)
Reference rs80358557(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32911601C>T
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031400.4, RCV000044120.4, RCV000160056.1, RCV000216711.1,