rs1060500116

plus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;G)	6	Cowden syndrome (PTEN hamartoma tumor syndrome) mutation

Make rs1060500116(G;G)

Chromosome

10

Position

87925524

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs1060500116
dbSNP (classic)	rs1060500116
ClinGen	rs1060500116
ebi	rs1060500116
HLI	rs1060500116
Exac	rs1060500116
Gnomad	rs1060500116
Varsome	rs1060500116
LitVar	rs1060500116
Map	rs1060500116
PheGenI	rs1060500116
Biobank	rs1060500116
1000 genomes	rs1060500116
hgdp	rs1060500116
ensembl	rs1060500116
geneview	rs1060500116
scholar	rs1060500116
google	rs1060500116
pharmgkb	rs1060500116
gwascentral	rs1060500116
openSNP	rs1060500116
23andMe	rs1060500116
SNPshot	rs1060500116
SNPdbe	rs1060500116
MSV3d	rs1060500116
GWAS Ctlg	rs1060500116

Max Magnitude

6

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 21194675 ]

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,