ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7806+4G>A

dbSNP: rs373180876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698191 SCV000532009 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698191 SCV002498204 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Invitae RCV002522518 SCV003507720 uncertain significance KBG syndrome 2022-05-13 criteria provided, single submitter clinical testing 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. This sequence change falls in intron 12 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 (rs373180876, 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: 389465). 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.

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