ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.3139_3140delinsAT (p.His1047Ile)

dbSNP: rs1725283257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352011 SCV001546528 uncertain significance Cowden syndrome 2020-07-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PIK3CA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant disrupts the p.His1047 amino acid residue in PIK3CA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25599672, 27631024, 28502725, 22658544, 23100325). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This sequence change replaces histidine with isoleucine at codon 1047 of the PIK3CA protein (p.His1047Ile). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and isoleucine.

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