ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys)

dbSNP: rs1397152286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822499 SCV000963306 uncertain significance Cowden syndrome 2018-08-13 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PIK3CA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 691 of the PIK3CA protein (p.Tyr691Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
Ambry Genetics RCV002415939 SCV002729781 uncertain significance Inborn genetic diseases 2022-06-28 criteria provided, single submitter clinical testing The p.Y691C variant (also known as c.2072A>G), located in coding exon 13 of the PIK3CA gene, results from an A to G substitution at nucleotide position 2072. The tyrosine at codon 691 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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