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rs276174859

From SNPedia

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


Make rs276174859(AG;AG)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339964
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174859
ebirs276174859
HLIrs276174859
Exacrs276174859
Varsomers276174859
Maprs276174859
PheGenIrs276174859
hapmaprs276174859
1000 genomesrs276174859
hgdprs276174859
ensemblrs276174859
gopubmedrs276174859
geneviewrs276174859
scholarrs276174859
googlers276174859
pharmgkbrs276174859
gwascentralrs276174859
openSNPrs276174859
23andMers276174859
23andMe allrs276174859
SNP Nexus

SNPshotrs276174859
SNPdbers276174859
MSV3drs276174859
GWAS Ctlgrs276174859
Max Magnitude6
rs276174859, also known as F1870X, c.5609_5610delTCinsAG and p.Phe1870Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174859(AG;AG)
Alt rs276174859(AG;AG)
Reference rs276174859(TC;TC)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32914101_32914102delTCinsAG
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044694.4, RCV000113449.1, RCV000129595.2, RCV000214770.1,