Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |