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rs80359663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CAGT) 6 BRCA2 variant considered pathogenic for breast cancer
(CAGT;CAGT) 0 common in clinvar


Make rs80359663(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330993
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359663
dbSNP (classic)rs80359663
ClinGenrs80359663
ebirs80359663
HLIrs80359663
Exacrs80359663
Gnomadrs80359663
Varsomers80359663
LitVarrs80359663
Maprs80359663
PheGenIrs80359663
Biobankrs80359663
1000 genomesrs80359663
hgdprs80359663
ensemblrs80359663
geneviewrs80359663
scholarrs80359663
googlers80359663
pharmgkbrs80359663
gwascentralrs80359663
openSNPrs80359663
23andMers80359663
SNPshotrs80359663
SNPdbers80359663
MSV3drs80359663
GWAS Ctlgrs80359663
Max Magnitude6

rs80359663, also known as 984del4, c.756_759delCAGT and p.Asp252_Ser253?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359663(-;-)
Alt rs80359663(-;-)
Reference Rs80359663(CAGT;CAGT)
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.32905130_32905133delCAGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045252.2, RCV000114137.3,