Have questions? Visit https://www.reddit.com/r/SNPedia

rs398122772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 4 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs398122772(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338228
GeneBRCA2
is asnp
is mentioned by
dbSNPrs398122772
ebirs398122772
HLIrs398122772
Exacrs398122772
Varsomers398122772
Maprs398122772
PheGenIrs398122772
hapmaprs398122772
1000 genomesrs398122772
hgdprs398122772
ensemblrs398122772
gopubmedrs398122772
geneviewrs398122772
scholarrs398122772
googlers398122772
pharmgkbrs398122772
gwascentralrs398122772
openSNPrs398122772
23andMers398122772
23andMe allrs398122772
SNP Nexus

SNPshotrs398122772
SNPdbers398122772
MSV3drs398122772
GWAS Ctlgrs398122772
Max Magnitude4

rs398122772, also known as c.3873delA or p.Gln1291Hisfs, is a mutation in the BRCA2 gene on chromosome 13.

It is considered pathogenic for breast cancer in ClinVar, however, this is based on only a single report submission.


ClinVar
Risk rs398122772(;)
Alt rs398122772(;)
Reference rs398122772(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912365delA
CLNSRC ClinVar
CLNACC RCV000077717.2,