PTEN NM_000314.8:c.416T>G, Leu139Ter

"This variant has been reported in ClinVar as Pathogenic (1 clinical laboratories)."

Error in OpenAI Consolidation. OncoKB: PTENL139*PTENL139*SomaticNCBI Gene:5728|Show additional gene information Variant OverviewPTEN, a lipid and protein phosphatase, is one of the most frequently mutated genes in cancer.The PTEN L139* is a truncating mutation in a tumor suppressor gene, and therefore is likely oncogenic.Hide mutation effect description The mutation effect description for truncating mutations in PTEN is: PTEN truncating mutations can produce several forms of C-terminally truncated PTEN proteins. Truncating mutations closer to the N-terminus result in loss of PTEN phosphatase function and an inability to negatively regulate PI3K/AKT pathway activity (PMID: 11237521). Expression of a PTEN truncation mutation in mouse embryonic fibroblasts demonstrated that these mutations are oncogenic and increase genome fragility due to the inability of PTEN to associate with chromosomal centromeres compared to the full-length protein (PMID: 17218262). JAX-CKB: PTEN L139* results in a premature truncation of the Pten protein at amino acid 139 of 403 (UniProt.org). L139* results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function.