Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413140 | SCV000492353 | likely pathogenic | not provided | 2016-11-29 | criteria provided, single submitter | clinical testing | The c.5030_5031delAA variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.5030_5031delAA variant causes a frameshift starting with codon Lysine 1677, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Lys1677ArgfsX19. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5030_5031delAA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret c.5030_5031delAA as a likely pathogenic variant. |