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rs276174903

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174903(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363436
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174903
dbSNP (classic)rs276174903
ClinGenrs276174903
ebirs276174903
HLIrs276174903
Exacrs276174903
Gnomadrs276174903
Varsomers276174903
LitVarrs276174903
Maprs276174903
PheGenIrs276174903
Biobankrs276174903
1000 genomesrs276174903
hgdprs276174903
ensemblrs276174903
geneviewrs276174903
scholarrs276174903
googlers276174903
pharmgkbrs276174903
gwascentralrs276174903
openSNPrs276174903
23andMers276174903
SNPshotrs276174903
SNPdbers276174903
MSV3drs276174903
GWAS Ctlgrs276174903
Max Magnitude6

rs276174903, also known as 8462insT, c.8234_8235insT and p.Leu2745?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs276174903(T;T)
Alt rs276174903(T;T)
Reference Rs276174903(-;-)
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.32937573dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045458.2, RCV000113892.3,