ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2187+3G>A

gnomAD frequency: 0.00001  dbSNP: rs758572428
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001297350 SCV001486362 uncertain significance Cowden syndrome 2020-10-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PIK3CA-related conditions. This variant is present in population databases (rs758572428, ExAC 0.006%). This sequence change falls in intron 14 of the PIK3CA gene. It does not directly change the encoded amino acid sequence of the PIK3CA protein, but it affects a nucleotide within the consensus splice site of the intron.

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