C124W (p.Cys124Trp) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
C124W (p.Cys124Trp) 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. The record also includes experimental measurements, published literature, and structural context.
C124W (p.Cys124Trp) variant details
- p.Cys124Trp
- rs1554898126
- ClinGen CA377482288
- ClinVar RCV002353055
- ClinVar RCV003454133
- Pathogenic/Likely pathogenic
- Cowden syndrome 1; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Cowden syndrome 1; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Combined: score 1.1
- 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)