D22H (p.Asp22His) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D22H (p.Asp22His) 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 likely pathogenic in the context of PTEN hamartoma tumor syndrome. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
D22H (p.Asp22His) variant details
- p.Asp22His
- rs876660420
- ClinGen CA10578904
- ClinVar RCV000221043
- ClinVar RCV002515722
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- MutPred 0.57
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.901
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)