D19N (p.Asp19Asn) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D19N (p.Asp19Asn) 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 PTEN hamartoma tumor syndrome. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- rs121909233
- ClinGen CA000517
- ClinVar RCV000008285
- ClinVar RCV001228979
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- MutPred 0.50
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in malignant melanoma)
- UniProt: Pathogenic (in malignant melanoma)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742
- Cited in: Identification of PTEN mutations in metastatic melanoma specimens. (PMID 10978354)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)