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rs276174853

From SNPedia

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


Make rs276174853(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339471
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174853
ebirs276174853
HLIrs276174853
Exacrs276174853
Varsomers276174853
Maprs276174853
PheGenIrs276174853
hapmaprs276174853
1000 genomesrs276174853
hgdprs276174853
ensemblrs276174853
gopubmedrs276174853
geneviewrs276174853
scholarrs276174853
googlers276174853
pharmgkbrs276174853
gwascentralrs276174853
openSNPrs276174853
23andMers276174853
23andMe allrs276174853
SNP Nexus

SNPshotrs276174853
SNPdbers276174853
MSV3drs276174853
GWAS Ctlgrs276174853
Max Magnitude6
rs276174853, also known as 5344delAATA, c.5116_5119delAATA and p.Asn1706_Thr1707?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174853(;)
Alt rs276174853(;)
Reference rs276174853(AATA;AATA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913608_32913611delAATA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044561.3, RCV000077344.3, RCV000131076.2,