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rs276174823

From SNPedia

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


Make rs276174823(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336826
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174823
dbSNP (classic)rs276174823
ClinGenrs276174823
ebirs276174823
HLIrs276174823
Exacrs276174823
Gnomadrs276174823
Varsomers276174823
LitVarrs276174823
Maprs276174823
PheGenIrs276174823
Biobankrs276174823
1000 genomesrs276174823
hgdprs276174823
ensemblrs276174823
geneviewrs276174823
scholarrs276174823
googlers276174823
pharmgkbrs276174823
gwascentralrs276174823
openSNPrs276174823
23andMers276174823
SNPshotrs276174823
SNPdbers276174823
MSV3drs276174823
GWAS Ctlgrs276174823
Max Magnitude6

rs276174823, also known as 2699del6, c.2471_2476delTAAATG and p.Leu824_Glu826, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs276174823(-;-)
Alt rs276174823(-;-)
Reference Rs276174823(TAAATG;TAAATG)
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.32910963_32910968delTAAATG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044004.2, RCV000113048.3,