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rs276174874

From SNPedia

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


Make rs276174874(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340849
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174874
dbSNP (classic)rs276174874
ClinGenrs276174874
ebirs276174874
HLIrs276174874
Exacrs276174874
Gnomadrs276174874
Varsomers276174874
LitVarrs276174874
Maprs276174874
PheGenIrs276174874
Biobankrs276174874
1000 genomesrs276174874
hgdprs276174874
ensemblrs276174874
geneviewrs276174874
scholarrs276174874
googlers276174874
pharmgkbrs276174874
gwascentralrs276174874
openSNPrs276174874
23andMers276174874
SNPshotrs276174874
SNPdbers276174874
MSV3drs276174874
GWAS Ctlgrs276174874
Max Magnitude6

rs276174874, also known as 6722delT, c.6494_6494delT and p.Leu2165Trpfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs276174874(-;-)
Alt rs276174874(-;-)
Reference Rs276174874(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914986delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044973.2, RCV000113600.2,