ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3889_3891dup (p.Asn1297dup)

dbSNP: rs778998883
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317422 SCV000850779 uncertain significance Inborn genetic diseases 2018-09-29 criteria provided, single submitter clinical testing The c.3889_3891dupAAC variant (also known as p.N1297dup), located in coding exon 7 of the ANKRD11 gene, results from an in-frame duplication of AAC at nucleotide positions 3889 to 3891. This results in the duplication of an extra residue between codons 1297 and 1298. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001615044 SCV001841311 benign not provided 2020-06-12 criteria provided, single submitter clinical testing
Invitae RCV002534965 SCV002971371 likely benign KBG syndrome 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945763 SCV004763120 likely benign ANKRD11-related condition 2022-03-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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