VUS: PM2 supporting is met because the variant has 0 of 1,513,740 alleles and 0 homozygotes in gnomAD v4.1.
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.
PIK3CA encodes the p110α catalytic subunit of PI3K, whose activation of AKT-mTOR signaling promotes cell survival, proliferation, growth, and motility and contributes to tumor development.
VUS: PM2 supporting is met because the variant has 0 of 1,513,740 alleles and 0 homozygotes in gnomAD v4.1.