rs1060500116

A SNP in the PTEN gene on chromosome 10. Its most notable genotype is C;G: Cowden syndrome (PTEN hamartoma tumor syndrome) mutation

Gene
PTEN
Location
Chr 1087,925,524 (GRCh38)
Highest magnitude
6.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;GMost notableBadCowden syndrome (PTEN hamartoma tumor syndrome) mutationVery important · 6.0

On SNPedia: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PTEN SNPs

All PTEN SNPs

Notes

From SNPedia

Notes

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. 23andMe name: i6017222

C;G

see rs1060500116.

Source and license

Adapted from rs1060500116 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.