T26N (p.Thr26Asn) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
T26N (p.Thr26Asn) 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 Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Cowden s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes experimental measurements, published literature, and structural context.
T26N (p.Thr26Asn) variant details
- p.Thr26Asn
- rs786204853
- ClinGen CA377782052
- ClinVar RCV001220448
- ClinVar RCV005262294
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Cowden s
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- MutPred 0.72
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.471
- 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)