ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.32_52del (p.Trp11_Pro18delinsSer)

dbSNP: rs2108385065
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254421 SCV002525573 likely pathogenic not provided 2021-08-20 criteria provided, single submitter clinical testing This variant is not reported in the medical literature, control population database (gnomAD v2.1.1) nor in ClinVar or cancer databases (cBioPortal, COSMIC, and NCI's Genomic Data Commons). This variant is a deletion of 21 base pairs predicted to result in the loss of eight amino acids and the insertion of a serine, denoted p.Trp11_Pro18delinsSer. This variant is located within the highly conserved PI3K adaptor-binding domain (ABD) region (UniProt P42336). Although this variant has not been previously reported, deletions in this region have been reported as oncogenic (PMID: 21266528, COSMIC and cBioPortal).

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