rs104886003

This is a variant in the PIK3CA gene that changes a glutamate to an lysine.

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ClinVar annotation

Pathogenic★★★☆
22 submitters68 publications

Abnormal cardiovascular system morphology; Angioosteohypertrophic syndrome (KTS); Breast adenocarcinoma; CLOVES syndrome; Carcinoma of colon (CRC); Cerebrofacial Vascular Metameric Syndrome (CVMS); Eccrine angiomatous hamartoma; Gallbladder cancer; Gastric cancer; HEMIFACIAL MYOHYPERPLASIA, SOMATIC; Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP); Non-small cell lung carcinoma (NSCLC); OVARIAN CANCER, EPITHELIAL, SOMATIC; Ovarian neoplasm; PIK3CA overgrowth syndrome; PIK3CA related overgrowth syndrome; Rare combined vascular malformation; Rare venous malformation; Sarcoma; Seborrheic keratosis; Segmental undergrowth associated with lymphatic malformation

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About PIK3CA

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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