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

rs80359025

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359025(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362691
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359025
dbSNP (classic)rs80359025
ClinGenrs80359025
ebirs80359025
HLIrs80359025
Exacrs80359025
Gnomadrs80359025
Varsomers80359025
LitVarrs80359025
Maprs80359025
PheGenIrs80359025
Biobankrs80359025
1000 genomesrs80359025
hgdprs80359025
ensemblrs80359025
geneviewrs80359025
scholarrs80359025
googlers80359025
pharmgkbrs80359025
gwascentralrs80359025
openSNPrs80359025
23andMers80359025
SNPshotrs80359025
SNPdbers80359025
MSV3drs80359025
GWAS Ctlgrs80359025
Max Magnitude6

rs80359025, also known as Y2658X, c.7974C>G and p.Tyr2658Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359025(A;A) rs80359025(G;G)
Alt rs80359025(A;A) rs80359025(G;G)
Reference Rs80359025(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32936828C>A; NC_000013.10:g.32936828C>G
CLNSRC ClinVar
CLNACC RCV000256889.2, RCV000031711.6, RCV000045360.2,