ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the impact of sequence variations on RNA splicing suggest this variant may produce or reinforce a splice internet site. In summary, the out there proof is now inadequate to find out the part of this variant in disease. Therefore, it's been labeled being a Variant of Uncertain Importance.
This benefit is calculated by NCBI dependant on facts from submitters. Examine our guidelines for calculating the evaluation position. The amount of submissions which add to this evaluate standing is revealed in parentheses.
This date represents the last time this VCV file was up-to-date. The update might be as a consequence of an update to one of many provided submitted documents (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or simply a rs number.
The worldwide insignificant allele frequency calculated because of the one thousand Genomes Task. The small allele at this place is indicated in parentheses and could be distinctive with the allele represented by this VCV file.
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There won't be any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, thr777 you should look at publishing that details to ClinVar.
The volume of variants in ClinVar which have been contained within just this gene, using a hyperlink to perspective the list of variants.
These citations are discovered by LitVar using the rs range, so They could contain citations for more than one variant at this spot. Make sure you evaluate the LitVar final results very carefully for your variant of curiosity. Report last up to date May well 19, 2024
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Stars signify the combination evaluate standing, or the level of assessment supporting the aggregate germline classification for this VCV history.
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Stars signify the assessment status, or the extent of critique supporting the submitted (SCV) report. This worth is calculated by NCBI depending on info from your submitter.