ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5552_5556del (p.Tyr1851fs)

dbSNP: rs1597445368
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008600 SCV001168373 pathogenic not provided 2019-03-08 criteria provided, single submitter clinical testing The c.5552_5556delACTCC variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5552_5556delACTCC variant causes a frameshift starting with codon Tyrosine 1851, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 97 of the new reading frame, denoted p.Tyr1851SerfsX97. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5552_5556delACTCC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5552_5556delACTCC as a pathogenic variant.

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