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rs80359615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359615(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340999
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359615
dbSNP (classic)rs80359615
ClinGenrs80359615
ebirs80359615
HLIrs80359615
Exacrs80359615
Gnomadrs80359615
Varsomers80359615
LitVarrs80359615
Maprs80359615
PheGenIrs80359615
Biobankrs80359615
1000 genomesrs80359615
hgdprs80359615
ensemblrs80359615
geneviewrs80359615
scholarrs80359615
googlers80359615
pharmgkbrs80359615
gwascentralrs80359615
openSNPrs80359615
23andMers80359615
SNPshotrs80359615
SNPdbers80359615
MSV3drs80359615
GWAS Ctlgrs80359615
Max Magnitude6

rs80359615, also known as 6872insA, c.6644_6645insA and p.Tyr2215?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359615(A;A)
Alt rs80359615(A;A)
Reference Rs80359615(-;-)
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.32915136dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045007.2, RCV000113619.3,