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rs587780653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 6 possible carrier of a pathogenic BRCA2 mutation
(G;G) 0 common in clinvar


Make rs587780653(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32326250
GeneBRCA2
is asnp
is mentioned by
dbSNPrs587780653
ebirs587780653
HLIrs587780653
Exacrs587780653
Varsomers587780653
Maprs587780653
PheGenIrs587780653
hapmaprs587780653
1000 genomesrs587780653
hgdprs587780653
ensemblrs587780653
gopubmedrs587780653
geneviewrs587780653
scholarrs587780653
googlers587780653
pharmgkbrs587780653
gwascentralrs587780653
openSNPrs587780653
23andMers587780653
23andMe allrs587780653
SNP Nexus

SNPshotrs587780653
SNPdbers587780653
MSV3drs587780653
GWAS Ctlgrs587780653
Max Magnitude6

rs587780653, also known as c.484delG and p.Ser163Valfs, is a rare mutation in the BRCA2 gene on chromosome 13.

The minor/rare allele is tagged as pathogenic for breast cancer in ClinVar, however, that is apparently based on a single external source of evidence that has not been independently verified.


ClinVar
Risk rs587780653(;)
Alt rs587780653(;)
Reference rs587780653(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32900387delG
CLNSRC
CLNACC RCV000122911.1,