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rs41293511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs41293511(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363369
GeneBRCA2
is asnp
is mentioned by
dbSNPrs41293511
ebirs41293511
HLIrs41293511
Exacrs41293511
Varsomers41293511
Maprs41293511
PheGenIrs41293511
hapmaprs41293511
1000 genomesrs41293511
hgdprs41293511
ensemblrs41293511
gopubmedrs41293511
geneviewrs41293511
scholarrs41293511
googlers41293511
pharmgkbrs41293511
gwascentralrs41293511
openSNPrs41293511
23andMers41293511
23andMe allrs41293511
SNP Nexus

SNPshotrs41293511
SNPdbers41293511
MSV3drs41293511
GWAS Ctlgrs41293511
Max Magnitude6

rs41293511, also known as c.8167G>C or p.Asp2723His, represents a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs41293511(C;C)
Alt rs41293511(C;C)
Reference rs41293511(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32937506G>C
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000045436.5, RCV000074555.6, RCV000077429.6, RCV000131674.2,