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rs276174814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TTTAT) 6 BRCA2 variant considered pathogenic for breast cancer
(ATCTT;ATCTT) 0 common in clinvar
(CTTAT;CTTAT) 0 common in clinvar
Make rs276174814(-;-)
Make rs276174814(-;CTTAT)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333274
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174814
ebirs276174814
HLIrs276174814
Exacrs276174814
Varsomers276174814
Maprs276174814
PheGenIrs276174814
hapmaprs276174814
1000 genomesrs276174814
hgdprs276174814
ensemblrs276174814
gopubmedrs276174814
geneviewrs276174814
scholarrs276174814
googlers276174814
pharmgkbrs276174814
gwascentralrs276174814
openSNPrs276174814
23andMers276174814
23andMe allrs276174814
SNP Nexus

SNPshotrs276174814
SNPdbers276174814
MSV3drs276174814
GWAS Ctlgrs276174814
Max Magnitude6
rs276174814, also known as 2024del5, c.1796_1800delTTTAT and p.Ser599_Tyr600?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174814(;)
Alt rs276174814(;)
Reference rs276174814(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,