ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing suggest this variant may produce or reinforce a splice internet site. In summary, the available proof is now inadequate to find out the job of the variant in disorder. Thus, it's been categorized as being a Variant of Unsure Importance.
This worth is calculated by NCBI depending on info from submitters. Read our rules for calculating the review standing. The number of submissions which add to this evaluate standing is revealed in parentheses.
There isn't a useful evidence in ClinVar for this variation. In case you have created functional knowledge for this variation, you should consider submitting that info to ClinVar.
This column consists of more information supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations with the variant because of the submitter.
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Study our guidelines for calculating the evaluation position. This column also features a website link towards the submitter’s assertion criteria if delivered, and the collection technique.
The amount of variants in ClinVar which can be contained inside this gene, by using a hyperlink to view the listing of variants.
These citations are determined by LitVar utilizing the rs amount, so They could include things like citations for multiple variant at this area. Please overview the LitVar success very carefully on your variant of desire. Record previous up-to-date May perhaps 19, thr777 2024
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Stars represent the combination evaluate standing, or the level of evaluate supporting the mixture germline classification for this VCV record.
The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly have the gene.
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