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rs276174825

From SNPedia

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


Make rs276174825(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319271
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174825
dbSNP (classic)rs276174825
ClinGenrs276174825
ebirs276174825
HLIrs276174825
Exacrs276174825
Gnomadrs276174825
Varsomers276174825
LitVarrs276174825
Maprs276174825
PheGenIrs276174825
Biobankrs276174825
1000 genomesrs276174825
hgdprs276174825
ensemblrs276174825
geneviewrs276174825
scholarrs276174825
googlers276174825
pharmgkbrs276174825
gwascentralrs276174825
openSNPrs276174825
23andMers276174825
SNPshotrs276174825
SNPdbers276174825
MSV3drs276174825
GWAS Ctlgrs276174825
Max Magnitude6

rs276174825, also known as 490delCT, c.262_263delCT and p.Leu88Alafs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

Note: the 23andMe probe (i5009247) corresponding to this genotype is unreliable (prone to false results).

ClinVar
Risk rs276174825(-;-)
Alt rs276174825(-;-)
Reference Rs276174825(CT;CT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32893408_32893409delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044028.3, RCV000113331.5, RCV000162895.1,