ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs) (rs886039734)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255546 SCV000322685 pathogenic not provided 2016-08-16 criteria provided, single submitter clinical testing The c.2175_2178delCAAA pathogenic variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2175_2178delCAAA variant causes a frameshift starting with codon Asparagine 725, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Asn725LysfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2175_2178delCAAA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2175_2178delCAAA as a pathogenic variant.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000255546 SCV000511350 likely pathogenic not provided 2017-01-27 criteria provided, single submitter clinical testing
Invitae RCV000505196 SCV000833241 pathogenic KBG syndrome 2018-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn725Lysfs*23) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with autism spectrum disorder (PMID: 27824329). ClinVar contains an entry for this variant (Variation ID: 265689). Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25413698). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000505196 SCV000599241 pathogenic KBG syndrome 2016-05-11 no assertion criteria provided clinical testing

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