ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.1955+5C>T

gnomAD frequency: 0.00001  dbSNP: rs201785210
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796921 SCV000936456 uncertain significance Immunodeficiency 14 2024-01-03 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the PIK3CD gene. It does not directly change the encoded amino acid sequence of the PIK3CD protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201785210, gnomAD 0.005%). This variant has been observed in individual(s) with clinical features of PIK3CD-related conditions (PMID: 36703223). ClinVar contains an entry for this variant (Variation ID: 643256). 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 is not likely to affect RNA splicing. 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.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002477815 SCV002774982 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501056 SCV002779716 uncertain significance Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 2021-12-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002477815 SCV005186411 uncertain significance not provided criteria provided, single submitter not provided
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000796921 SCV001984325 uncertain significance Immunodeficiency 14 2020-11-22 flagged submission 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.