ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6063_6071del (p.Pro2022_Pro2024del)

dbSNP: rs771037147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318072 SCV000849728 uncertain significance Inborn genetic diseases 2017-05-28 criteria provided, single submitter clinical testing The c.6063_6071delTCCTGCCCC variant (also known as p.P2022_P2024del) is located in coding exon 7 of the ANKRD11 gene. This variant results from an in-frame TCCTGCCCC deletion at nucleotide positions 6063 to 6071. This results in the in-frame deletion of PAP at codons 2022 to 2024. These amino acid positions are conserved on limited sequence alignment. In addition, this alteration is predicted to be neutral by PROVEAN in silico analysis (Choi Y et al., PLoS ONE 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003327455 SCV004034772 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing In-frame deletion of 3 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003525953 SCV004353362 uncertain significance KBG syndrome 2024-09-04 criteria provided, single submitter clinical testing This variant, c.6063_6071del, results in the deletion of 3 amino acid(s) of the ANKRD11 protein (p.Pro2022_Pro2024del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771037147, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 589132). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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