ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs)

dbSNP: rs772267579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481896 SCV000573915 pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing The c.3309delA variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3309delA variant causes a frameshift starting with codon Aspartic Acid 1104, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 214 of the new reading frame, denoted p.Asp1104MetfsX214. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3309delA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret c.3309delA as a pathogenic variant
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293719 SCV001482368 pathogenic KBG syndrome 2019-05-31 no assertion criteria provided research

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