ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)

gnomAD frequency: 0.00003  dbSNP: rs758253493
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807422 SCV000947473 uncertain significance Immunodeficiency 14 2022-01-02 criteria provided, single submitter clinical testing This sequence change affects codon 414 of the PIK3CD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PIK3CD protein. This variant also falls at the last nucleotide of exon 9, which is part of the consensus splice site for this exon. 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. Variants that disrupt 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 651966). This variant has not been reported in the literature in individuals affected with PIK3CD-related conditions. This variant is present in population databases (rs758253493, gnomAD 0.008%).
GeneDx RCV001552565 SCV001773271 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics RCV002501090 SCV002814814 uncertain significance Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 2022-04-28 criteria provided, single submitter clinical testing

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.