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rs1060500116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 6 Cowden syndrome (PTEN hamartoma tumor syndrome) mutation
Make rs1060500116(G;G)
Chromosome10
Position87925524
GenePTEN
is asnp
is mentioned by
dbSNPrs1060500116
dbSNP (old)rs1060500116
ClinGenrs1060500116
ebirs1060500116
HLIrs1060500116
Exacrs1060500116
Gnomadrs1060500116
Varsomers1060500116
Maprs1060500116
PheGenIrs1060500116
Biobankrs1060500116
1000 genomesrs1060500116
hgdprs1060500116
ensemblrs1060500116
gopubmedrs1060500116
geneviewrs1060500116
scholarrs1060500116
googlers1060500116
pharmgkbrs1060500116
gwascentralrs1060500116
openSNPrs1060500116
23andMers1060500116
23andMe allrs1060500116
SNPshotrs1060500116
SNPdbers1060500116
MSV3drs1060500116
GWAS Ctlgrs1060500116
Max Magnitude6

rs1060500116, also known as c.176C>G, p.Ser59Ter and S59X, represents a very rare mutation in the PTEN gene on chromosome 10.

The minor allele, rs1060500116(G), is reported in ClinVar as leading to Cowden syndrome, a part of the PTEN hamartoma tumor syndrome (PHTS) spectrum, based on a 2011 publication and analysis by a private lab. Note that the truncation observed in a patient suspected of having Cowden syndrome in this publication was not a c.176C>G mutation (it was c.176C>A), but both mutations result in a stop codon and a truncated protein.[PMID 21194675OA-icon.png]

23andMe name: i6017222

ClinVar
Risk rs1060500116(G;G)
Alt rs1060500116(G;G)
Reference Rs1060500116(C;C)
Significance Pathogenic
Disease PTEN hamartoma tumor syndrome
Variation info
Gene PTEN
CLNDBN PTEN hamartoma tumor syndrome
Reversed 0
HGVS NC_000010.10:g.89685281C>G
CLNSRC
CLNACC RCV000473713.1,