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rs276174852

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;AAA) 6 BRCA2 variant considered pathogenic for breast cancer
(GC;GC) 0 common in clinvar
Make rs276174852(AAA;AAA)
Make rs276174852(AAA;GC)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339420
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174852
ebirs276174852
HLIrs276174852
Exacrs276174852
Varsomers276174852
Maprs276174852
PheGenIrs276174852
hapmaprs276174852
1000 genomesrs276174852
hgdprs276174852
ensemblrs276174852
gopubmedrs276174852
geneviewrs276174852
scholarrs276174852
googlers276174852
pharmgkbrs276174852
gwascentralrs276174852
openSNPrs276174852
23andMers276174852
23andMe allrs276174852
SNP Nexus

SNPshotrs276174852
SNPdbers276174852
MSV3drs276174852
GWAS Ctlgrs276174852
Max Magnitude6
rs276174852, also known as 5293delGCinsAAA, c.5065_5066delGCinsAAA and p.Ala1689?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174852(AAA;AAA)
Alt rs276174852(AAA;AAA)
Reference rs276174852(GC;GC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913557_32913558delGCinsAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044546.2, RCV000113372.1,