ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3529-3C>T

gnomAD frequency: 0.00002  dbSNP: rs753183777
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221943 SCV000270082 likely benign not specified 2015-04-30 criteria provided, single submitter clinical testing c.3529-3C>T in intron 47 of COL11A2: This variant is not expected to have clinic al significance because it does not cause the splice site sequence to diverge fr om consensus. It has been identified in 2/11204 of Latino chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
GeneDx RCV001567032 SCV001790646 uncertain significance not provided 2025-02-05 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001567032 SCV002178264 uncertain significance not provided 2024-08-17 criteria provided, single submitter clinical testing This sequence change falls in intron 47 of the COL11A2 gene. It does not directly change the encoded amino acid sequence of the COL11A2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs753183777, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COL11A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 227269). 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.

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