ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) (rs867262025)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624735 SCV000742002 pathogenic Inborn genetic diseases 2016-11-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Database of Curated Mutations (DoCM) RCV000437047 SCV000506905 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419986 SCV000506906 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429813 SCV000506907 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440466 SCV000506908 likely pathogenic Uterine cervical neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424090 SCV000506909 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431306 SCV000506910 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441124 SCV000506911 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423869 SCV000506912 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
GeneDx RCV000484330 SCV000568812 pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing The E726K pathogenic variant in the PIK3CA gene has been reported previously, including as a mosaic finding, in individuals with megalencephaly-capillary malformation syndrome (Rivière et al., 2012; Tapper et al., 2014). The E726K variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E726K variant is a non-conservative aminoacid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E726K as a pathogenic variant.

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