D252G (p.Asp252Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D252G (p.Asp252Gly) 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 pathogenic in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
D252G (p.Asp252Gly) variant details
- p.Asp252Gly
- rs121909239
- ClinGen CA000564
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in MCEPHAS and CWS1)
- UniProt: Pathogenic (in MCEPHAS and CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.117
- Cited in: Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour… (PMID 15805158)
- Cited in: Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (PMID 21659347)