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PIK3CA encodes the p110α catalytic subunit of phosphoinositide 3-kinase (PI3K), an enzyme that converts the membrane lipid PIP2 into PIP3, thereby activating signaling cascades such as the AKT-mTOR pathway that promote cell survival, proliferation, growth, and motility. It is among the most commonly mutated genes in cancer, and aberrant activation of PI3K signaling is a driving event in tumor development, with the gene implicated in cancers including cervical cancer. Because this pathway is central to tumor growth, it is a major target of cancer therapies, although drug-induced pathway activation can also contribute to treatment resistance.
This PIK3CA variant affects the p110α kinase domain in a gene whose altered PI3K-AKT-mTOR signaling is implicated in cerebral malformations and tumor growth.
PM1 supporting: residues 469-470 fall within the VCEP-approved PIK3CA kinase domain spanning amino acids 322-483. PM2 supporting: the variant is absent from the queried gnomAD v2.1 and v4.1 datasets.
