I5N (p.Ile5Asn) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
I5N (p.Ile5Asn) 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; Hereditary cancer-predisposing syndrome. The record also includes experimental measurements, published literature, and structural context.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- rs2132145451
- ClinGen CA377781803
- ClinVar RCV001979931
- ClinVar RCV003303484
- Uncertain significance
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.198
- 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)