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rs80359668

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 Possible miscall in Ancestry data; otherwise, BRCA2 variant considered pathogenic for breast cancer
Make rs80359668(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32357751
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359668
dbSNP (classic)rs80359668
ClinGenrs80359668
ebirs80359668
HLIrs80359668
Exacrs80359668
Gnomadrs80359668
Varsomers80359668
LitVarrs80359668
Maprs80359668
PheGenIrs80359668
Biobankrs80359668
1000 genomesrs80359668
hgdprs80359668
ensemblrs80359668
geneviewrs80359668
scholarrs80359668
googlers80359668
pharmgkbrs80359668
gwascentralrs80359668
openSNPrs80359668
23andMers80359668
SNPshotrs80359668
SNPdbers80359668
MSV3drs80359668
GWAS Ctlgrs80359668
Max Magnitude6

rs80359668, also known as 7855insT, c.7627_7628insT and p.Tyr2543?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359668(T;T)
Alt rs80359668(T;T)
Reference Rs80359668(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32931888dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113798.3,