ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.1339+4G>A

dbSNP: rs751591906
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244252 SCV001417459 uncertain significance Immunodeficiency 14 2023-10-29 criteria provided, single submitter clinical testing This sequence change falls in intron 10 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 (rs751591906, gnomAD 0.03%). This variant has been observed in individual(s) with primary antibody deficiency (PMID: 29921932). ClinVar contains an entry for this variant (Variation ID: 969000). 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 RCV002480824 SCV002774981 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484352 SCV002791606 uncertain significance Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 2022-01-07 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001244252 SCV001984324 uncertain significance Immunodeficiency 14 2020-11-22 flagged submission clinical testing

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