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rs276174865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174865(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340322
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174865
dbSNP (classic)rs276174865
ClinGenrs276174865
ebirs276174865
HLIrs276174865
Exacrs276174865
Gnomadrs276174865
Varsomers276174865
LitVarrs276174865
Maprs276174865
PheGenIrs276174865
Biobankrs276174865
1000 genomesrs276174865
hgdprs276174865
ensemblrs276174865
geneviewrs276174865
scholarrs276174865
googlers276174865
pharmgkbrs276174865
gwascentralrs276174865
openSNPrs276174865
23andMers276174865
SNPshotrs276174865
SNPdbers276174865
MSV3drs276174865
GWAS Ctlgrs276174865
Max Magnitude6

rs276174865, also known as 6195insA, c.5967_5968insA and p.Ser1989_Asp1990?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs276174865(A;A)
Alt rs276174865(A;A)
Reference Rs276174865(-;-)
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.32914459dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044806.2, RCV000113511.3,