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rs80359112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359112(A;A)
Make rs80359112(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32371040
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359112
ebirs80359112
HLIrs80359112
Exacrs80359112
Varsomers80359112
Maprs80359112
PheGenIrs80359112
hapmaprs80359112
1000 genomesrs80359112
hgdprs80359112
ensemblrs80359112
gopubmedrs80359112
geneviewrs80359112
scholarrs80359112
googlers80359112
pharmgkbrs80359112
gwascentralrs80359112
openSNPrs80359112
23andMers80359112
23andMe allrs80359112
SNP Nexus

SNPshotrs80359112
SNPdbers80359112
MSV3drs80359112
GWAS Ctlgrs80359112
Max Magnitude6
rs80359112, also known as Q2858X, c.8572C>T and p.Gln2858Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359112(A,T;A,T)
Alt rs80359112(A,T;A,T)
Reference rs80359112(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not specified
Reversed 0
HGVS NC_000013.10:g.32945177C>A; NC_000013.10:g.32945177C>T
CLNSRC ClinVar
CLNACC RCV000045560.4, RCV000113961.1, RCV000166603.1, RCV000212278.1, RCV000045561.2, RCV000113962.1,