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rs79728106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs79728106(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337521
GeneBRCA2
is asnp
is mentioned by
dbSNPrs79728106
ebirs79728106
HLIrs79728106
Exacrs79728106
Varsomers79728106
Maprs79728106
PheGenIrs79728106
hapmaprs79728106
1000 genomesrs79728106
hgdprs79728106
ensemblrs79728106
gopubmedrs79728106
geneviewrs79728106
scholarrs79728106
googlers79728106
pharmgkbrs79728106
gwascentralrs79728106
openSNPrs79728106
23andMers79728106
23andMe allrs79728106
SNP Nexus

SNPshotrs79728106
SNPdbers79728106
MSV3drs79728106
GWAS Ctlgrs79728106
Max Magnitude6
rs79728106, also known as Q1056X, c.3166C>T and p.Gln1056Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs79728106(A,T;A,T)
Alt rs79728106(A,T;A,T)
Reference rs79728106(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32911658C>T
CLNSRC ClinVar
CLNACC RCV000044134.3, RCV000077295.3, RCV000223645.1,