H61D (p.His61Asp) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
H61D (p.His61Asp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
H61D (p.His61Asp) variant details
- p.His61Asp
- rs121909236
- ClinGen CA000330
- ClinVar RCV000008290
- ClinVar RCV000758234
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (found in a patient with congenital cardiac disease, macrocephaly)
- UniProt: Pathogenic (found in a patient with congenital cardiac disease, macrocephaly)
- Structural context available
- PTEN VAMP-seq Combined: score 0.435
- Cited in: A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of… (PMID 11748304)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)