ClinVar Miner

Submissions for variant NM_001250.6(CD40):c.750A>G (p.Pro250=)

gnomAD frequency: 0.00014  dbSNP: rs376780996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755895 SCV000883543 likely benign not provided 2017-07-03 criteria provided, single submitter clinical testing The c.750A>G variant (rs376780996) does not alter the amino acid sequence of the CD40 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with primary antibody deficiency in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.01 percent (identified on 30 out of 277,212 chromosomes). Based on these observations, the c.750A>G variant is likely to be benign.
Illumina Laboratory Services, Illumina RCV001143076 SCV001303575 uncertain significance Hyper-IgM syndrome type 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000755895 SCV003486040 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing

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