ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2015+4A>C (rs1060500026)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466857 SCV000541310 uncertain significance Cowden syndrome 2016-11-29 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the PIK3CA gene. It does not directly change the encoded amino acid sequence of the PIK3CA protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PIK3CA-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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