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rs276174904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174904(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32363525
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174904
dbSNP (classic)rs276174904
ClinGenrs276174904
ebirs276174904
HLIrs276174904
Exacrs276174904
Gnomadrs276174904
Varsomers276174904
LitVarrs276174904
Maprs276174904
PheGenIrs276174904
Biobankrs276174904
1000 genomesrs276174904
hgdprs276174904
ensemblrs276174904
geneviewrs276174904
scholarrs276174904
googlers276174904
pharmgkbrs276174904
gwascentralrs276174904
openSNPrs276174904
23andMers276174904
SNPshotrs276174904
SNPdbers276174904
MSV3drs276174904
GWAS Ctlgrs276174904
Max Magnitude6

rs276174904, also known as 8551insA, c.8323_8324insA and p.Met2775?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs276174904(A;A)
Alt rs276174904(A;A)
Reference Rs276174904(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32937662dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113901.3,