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rs80359022

From SNPedia

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


Make rs80359022(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362675
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359022
ebirs80359022
HLIrs80359022
Exacrs80359022
Varsomers80359022
Maprs80359022
PheGenIrs80359022
hapmaprs80359022
1000 genomesrs80359022
hgdprs80359022
ensemblrs80359022
gopubmedrs80359022
geneviewrs80359022
scholarrs80359022
googlers80359022
pharmgkbrs80359022
gwascentralrs80359022
openSNPrs80359022
23andMers80359022
23andMe allrs80359022
SNP Nexus

SNPshotrs80359022
SNPdbers80359022
MSV3drs80359022
GWAS Ctlgrs80359022
Max Magnitude6

rs80359022, also known as c.7958T>C or p.Leu2653Pro, represents a rare mutation in the BRCA2 gene.

The minor/rare allele for this SNP is considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs80359022(C;C)
Alt rs80359022(C;C)
Reference rs80359022(T;T)
Significance Other
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.32936812T>C
CLNSRC ClinVar
CLNACC RCV000045355.3, RCV000113844.1,