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rs56253082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs56253082(A;A)
Make rs56253082(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340137
GeneBRCA2
is asnp
is mentioned by
dbSNPrs56253082
ebirs56253082
HLIrs56253082
Exacrs56253082
Varsomers56253082
Maprs56253082
PheGenIrs56253082
hapmaprs56253082
1000 genomesrs56253082
hgdprs56253082
ensemblrs56253082
gopubmedrs56253082
geneviewrs56253082
scholarrs56253082
googlers56253082
pharmgkbrs56253082
gwascentralrs56253082
openSNPrs56253082
23andMers56253082
23andMe allrs56253082
SNP Nexus

SNPshotrs56253082
SNPdbers56253082
MSV3drs56253082
GWAS Ctlgrs56253082
Max Magnitude6
rs56253082, also known as E1928X, c.5782G>T and p.Glu1928Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs56253082(A,T;A,T)
Alt rs56253082(A,T;A,T)
Reference rs56253082(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32914274G>A; NC_000013.10:g.32914274G>T
CLNSRC ClinVar
CLNACC RCV000044753.4, RCV000077360.5, RCV000164827.2, RCV000031577.5, RCV000044754.3, RCV000160102.1,