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rs80358547

From SNPedia

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


Make rs80358547(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316462
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358547
ebirs80358547
HLIrs80358547
Exacrs80358547
Varsomers80358547
Maprs80358547
PheGenIrs80358547
hapmaprs80358547
1000 genomesrs80358547
hgdprs80358547
ensemblrs80358547
gopubmedrs80358547
geneviewrs80358547
scholarrs80358547
googlers80358547
pharmgkbrs80358547
gwascentralrs80358547
openSNPrs80358547
23andMers80358547
23andMe allrs80358547
SNP Nexus

SNPshotrs80358547
SNPdbers80358547
MSV3drs80358547
GWAS Ctlgrs80358547
Max Magnitude6

rs80358547 represents either a c.2T>G (p.Met1Arg) or a c.2T>C (p.Met1Thr) mutation in the BRCA2 gene.

Both are considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs80358547(C,G;C,G)
Alt rs80358547(C,G;C,G)
Reference rs80358547(T;T)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32890599T>C; NC_000013.10:g.32890599T>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000044101.2, RCV000165930.1, RCV000044102.2, RCV000113010.1, RCV000131870.2,