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

rs80358494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358494(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336579
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358494
ebirs80358494
HLIrs80358494
Exacrs80358494
Varsomers80358494
Maprs80358494
PheGenIrs80358494
hapmaprs80358494
1000 genomesrs80358494
hgdprs80358494
ensemblrs80358494
gopubmedrs80358494
geneviewrs80358494
scholarrs80358494
googlers80358494
pharmgkbrs80358494
gwascentralrs80358494
openSNPrs80358494
23andMers80358494
23andMe allrs80358494
SNP Nexus

SNPshotrs80358494
SNPdbers80358494
MSV3drs80358494
GWAS Ctlgrs80358494
Max Magnitude6
rs80358494, also known as Q742X, c.2224C>T and p.Gln742Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358494(A,T;A,T)
Alt rs80358494(A,T;A,T)
Reference rs80358494(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32910716C>A; NC_000013.10:g.32910716C>T
CLNSRC ClinVar
CLNACC RCV000164550.1, RCV000043958.4, RCV000077273.3, RCV000212220.1,