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rs276174871

From SNPedia

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


Make rs276174871(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340680
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174871
dbSNP (classic)rs276174871
ClinGenrs276174871
ebirs276174871
HLIrs276174871
Exacrs276174871
Gnomadrs276174871
Varsomers276174871
LitVarrs276174871
Maprs276174871
PheGenIrs276174871
Biobankrs276174871
1000 genomesrs276174871
hgdprs276174871
ensemblrs276174871
geneviewrs276174871
scholarrs276174871
googlers276174871
pharmgkbrs276174871
gwascentralrs276174871
openSNPrs276174871
23andMers276174871
SNPshotrs276174871
SNPdbers276174871
MSV3drs276174871
GWAS Ctlgrs276174871
Max Magnitude6

rs276174871, also known as c.6323_6324delGT, 6553delGT, c.6325_6326delGT and p.Val2109Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs276174871(-;-)
Alt rs276174871(-;-)
Reference Rs276174871(GT;GT)
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.32914817_32914818delGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044914.2, RCV000113574.3,