rs121909229
A SNP in the PTEN gene on chromosome 10. Its most notable genotype is A;G: Likely miscall in Ancestry data; otherwise, Hereditary cancer predisposing syndrome
- Gene
- PTEN
- Location
- Chr 1087,933,148 (GRCh38)
- Highest magnitude
- 6.3Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadLikely miscall in Ancestry data; otherwise, Hereditary cancer predisposing syndrome
- G;GGoodcommon in clinvar
- G;TBadHereditary cancer predisposing syndrome
On SNPedia: (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PTEN SNPs
- rs121909235A;GGlioma susceptibility; meningioma (indicatedVery important
- rs121909236G;GVater association with macrocephaly and ventriculomegaly; PTEN related disorder though?Very important
- rs121909218A;GCowden syndromeVery important
- rs121909219C;TMacrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndromeVery important
- rs121909220G;TLhermitte-Duclos diseaseVery important
- rs121909221A;TBannayan-Riley-Ruvalcaba syndromeVery important
- rs121909222A;GCowden syndromeVery important
- rs121909223C;TCowden syndromeVery important
Notes
From SNPedia
Notes
rs121909229 represents a variant in the PTEN gene on chromosome 10. All three possible substition mutations are known, so this rs121909229 is also known as c.389G>T (p.Arg130Leu), c.389G>A (p.Arg130Gln), and c.389G>C (p.Arg130Pro). The first two variants are considered pathogenic as germline mutations leading to PTEN-related cancer predispositions; the clinical significance of the third (c.389G>C) is uncertain.
A;G
Considered pathogenic in ClinVar.
G;T
Considered pathogenic in ClinVar.
Source and license
Adapted from rs121909229 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.