ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.851A>G (p.Asn284Ser)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002942754 SCV003271933 uncertain significance Cowden syndrome 2022-09-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 284 of the PIK3CA protein (p.Asn284Ser). This variant is not present in population databases (gnomAD no frequency). 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 tolerated. 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.
Ambry Genetics RCV004958864 SCV005468858 uncertain significance Inborn genetic diseases 2024-11-05 criteria provided, single submitter clinical testing The p.N284S variant (also known as c.851A>G), located in coding exon 4 of the PIK3CA gene, results from an A to G substitution at nucleotide position 851. The asparagine at codon 284 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.