Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359140(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379440
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359140
ebirs80359140
HLIrs80359140
Exacrs80359140
Varsomers80359140
Maprs80359140
PheGenIrs80359140
hapmaprs80359140
1000 genomesrs80359140
hgdprs80359140
ensemblrs80359140
gopubmedrs80359140
geneviewrs80359140
scholarrs80359140
googlers80359140
pharmgkbrs80359140
gwascentralrs80359140
openSNPrs80359140
23andMers80359140
23andMe allrs80359140
SNP Nexus

SNPshotrs80359140
SNPdbers80359140
MSV3drs80359140
GWAS Ctlgrs80359140
Max Magnitude6
rs80359140, also known as Q2960X, c.8878C>T and p.Gln2960Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359140(T;T)
Alt rs80359140(T;T)
Reference rs80359140(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32953577C>T
CLNSRC ClinVar
CLNACC RCV000045646.3, RCV000077455.4, RCV000162940.1, RCV000223154.1,