ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3096del (p.Ser1033fs)

dbSNP: rs1555528717
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519306 SCV000621838 pathogenic not provided 2017-10-17 criteria provided, single submitter clinical testing The c.3096delC variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3096delC variant causes a frameshift starting with codon Serine 1033, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 285 of the new reading frame, denoted p.Ser1033ValfsX285. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3096delC variant is not observed in large population cohorts (Lek et al., 2016).

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