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rs80359212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359212(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394814
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359212
ebirs80359212
HLIrs80359212
Exacrs80359212
Varsomers80359212
Maprs80359212
PheGenIrs80359212
hapmaprs80359212
1000 genomesrs80359212
hgdprs80359212
ensemblrs80359212
gopubmedrs80359212
geneviewrs80359212
scholarrs80359212
googlers80359212
pharmgkbrs80359212
gwascentralrs80359212
openSNPrs80359212
23andMers80359212
23andMe allrs80359212
SNP Nexus

SNPshotrs80359212
SNPdbers80359212
MSV3drs80359212
GWAS Ctlgrs80359212
Max Magnitude6
rs80359212, also known as R3128X, c.9382C>T and p.Arg3128Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359212(T;T)
Alt rs80359212(T;T)
Reference rs80359212(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.32968951C>T
CLNSRC HGMD
CLNACC RCV000045807.4, RCV000077469.9, RCV000131048.2, RCV000160169.2,