G132S (p.Gly132Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
G132S (p.Gly132Ser) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Macrocephaly-autism syndrome; not provided; PTEN hamartoma tumor syndrome. The record also includes experimental measurements, published literature, and structural context.
G132S (p.Gly132Ser) variant details
- p.Gly132Ser
- rs2493717879
- ClinGen CA2697558585
- ClinVar RCV003484297
- Uncertain significance
- Macrocephaly-autism syndrome; not provided; PTEN hamartoma tumor syndrome
- Missense
- ClinVar: Uncertain significance (Prostate cancer, hereditary, 1)
- EBI: Variant of uncertain significance (in one patient with clinical findings suggesting hamartoma tumor)
- UniProt: Uncertain significance (in one patient with clinical findings suggesting hamartoma tumor)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.309
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Molecular Biomarkers in Localized Prostate Cancer: ASCO Guideline. (PMID 31829902)