ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7714-3C>A

gnomAD frequency: 0.00026  dbSNP: rs199741062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001598531 SCV001830604 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001866243 SCV002117677 uncertain significance KBG syndrome 2024-01-18 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the ANKRD11 gene. It does not directly change the encoded amino acid sequence of the ANKRD11 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199741062, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. 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: 1223522). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV002405266 SCV002674853 likely benign Inborn genetic diseases 2019-03-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003399410 SCV004120575 uncertain significance ANKRD11-related disorder 2023-07-25 criteria provided, single submitter clinical testing The ANKRD11 c.7714-3C>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.055% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-89337320-G-T)-G-T), which is likely too common for an undocumented disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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