ClinVar Miner

Submissions for variant NM_001250.5(CD40):c.-69delT

gnomAD frequency: 0.01244  dbSNP: rs11569300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001844129 SCV000434121 likely benign Hyperimmunoglobulin M syndrome 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590173 SCV000697795 benign not provided 2016-08-17 criteria provided, single submitter clinical testing Variant summary: The CD40 c.-69delT variant involves the alteration of a non-conserved nucleotide. One in silico tool predicts a benign outcome for this variant. This variant was found in 242/17514 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0428 (239/5580). This frequency is about 271 times the estimated maximal expected allele frequency of a pathogenic CD40 variant (0.0001581), suggesting this is likely a benign polymorphism found primarily in the populations of origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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