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rs276174854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GTAT) 6 BRCA2 variant considered pathogenic for breast cancer
(TGTA;TGTA) 0 common in clinvar
Make rs276174854(-;-)
Make rs276174854(GTAT;GTAT)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339500
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174854
ebirs276174854
HLIrs276174854
Exacrs276174854
Varsomers276174854
Maprs276174854
PheGenIrs276174854
hapmaprs276174854
1000 genomesrs276174854
hgdprs276174854
ensemblrs276174854
gopubmedrs276174854
geneviewrs276174854
scholarrs276174854
googlers276174854
pharmgkbrs276174854
gwascentralrs276174854
openSNPrs276174854
23andMers276174854
23andMe allrs276174854
SNP Nexus

SNPshotrs276174854
SNPdbers276174854
MSV3drs276174854
GWAS Ctlgrs276174854
Max Magnitude6
rs276174854, also known as 5373delGTAT, c.5145_5148delGTAT and p.Leu1715_Tyr1716?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174854(;)
Alt rs276174854(;)
Reference rs276174854(TGTA;TGTA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32913638_32913641delTATG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044567.3, RCV000113387.1, RCV000214399.1,