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rs276174813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ATTTT) 6 BRCA2 variant considered pathogenic for breast cancer
(ATCTT;ATCTT) 0 common in clinvar
Make rs276174813(-;-)
Make rs276174813(-;ATCTT)
ReferenceGRCh38 38.1/142
Chromosome13
Position32333272
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174813
ebirs276174813
HLIrs276174813
Exacrs276174813
Varsomers276174813
Maprs276174813
PheGenIrs276174813
hapmaprs276174813
1000 genomesrs276174813
hgdprs276174813
ensemblrs276174813
gopubmedrs276174813
geneviewrs276174813
scholarrs276174813
googlers276174813
pharmgkbrs276174813
gwascentralrs276174813
openSNPrs276174813
23andMers276174813
23andMe allrs276174813
SNP Nexus

SNPshotrs276174813
SNPdbers276174813
MSV3drs276174813
GWAS Ctlgrs276174813
Max Magnitude6
rs276174813, also known as 2022del5, c.1794_1798delATTTT and p.Thr598_Tyr600?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174813(;)
Alt rs276174813(;)
Reference rs276174813(ATCTT;ATCTT)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32907411_32907415delCTTAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031337.6, RCV000043887.5, RCV000129987.2, RCV000168232.3,