D24G (p.Asp24Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D24G (p.Asp24Gly) 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/likely pathogenic in the context of Cowden syndrome 1; Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor. The record also includes experimental measurements, published literature, and structural context.
D24G (p.Asp24Gly) variant details
- p.Asp24Gly
- rs797044910
- ClinGen CA204760
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Cowden syndrome 1; Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Cowden syndrome 1; Hereditary cancer-predisposing syndrome; PTEN)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.848
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)