ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.804G>A (p.Glu268=)

gnomAD frequency: 0.00001  dbSNP: rs767451280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302248 SCV001491447 uncertain significance Inflammatory bowel disease 25 2022-09-13 criteria provided, single submitter clinical testing 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1005386). This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. This variant is present in population databases (rs767451280, gnomAD 0.0009%). This sequence change affects codon 268 of the IL10RB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IL10RB protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon. 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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