PIK3CA NM_006218.2:c.1173A>G, Ile391Met

"This variant has been reported in ClinVar as Benign (7 clinical laboratories) and as Benign by ClinGen Brain Malformations Variant Curation Expert Panel expert panel."

Error in OpenAI Consolidation. OncoKB: PIK3CAI391MPIK3CAI391MSomaticNCBI Gene:5290|Show additional gene information Variant OverviewPIK3CA, the catalytic subunit of PI3-kinase, is frequently mutated in a diverse range of cancers including breast, endometrial and cervical cancers.There is conflicting and/or weak data describing the biological significance of the PIK3CA I391M mutation.Hide mutation effect description The PIK3CA I391M mutation is located in the C2 domain in exon 7 of the protein. There is conflicting functional data for this mutation. In vitro kinase assays demonstrated that this mutation is likely neutral as measured by kinase activity comparable to wildtype PIK3CA (PMID: 20530683). However, expression of this mutation in MCF10A but not Ba/F3 cell lines led to proliferation in the absence of growth factors (PMID: 29533785). JAX-CKB: PIK3CA I391M lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). I391M demonstrates kinase activity similar to wild-type Pik3ca in one study (PMID: 20530683), but results in increased cell proliferation and cell viability as compared to wild-type Pik3ca in one of two different cell lines (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown.