ClinVar Miner

Submissions for variant NM_012092.4(ICOS):c.136_139del (p.Asp46fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337834 SCV004048187 likely pathogenic Immunodeficiency, common variable, 1 criteria provided, single submitter clinical testing The frameshift deletion p.D46Lfs*10 in ICOS (NM_012092.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.D46Lfs*10 variant is novel (not in any individuals) in gnomAD Exomes. This variant is predicted to cause loss of normal protein function through protein truncation caused a frameshift mutation. The frame shifted sequence continues 10 residues until a stop codon is reached. The p.D46Lfs*10 variant is a loss of function variant in the gene ICOS, which is intolerant of Loss of Function variants. For these reasons, this variant has been classified as Likely Pathogenic.

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