ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the influence of sequence variations on RNA splicing propose this variant may perhaps build or fortify a splice web page. In summary, the out there proof is at present inadequate to ascertain the purpose of this variant in disease. Consequently, it's been categorized as being a Variant of Unsure Significance. (less)
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This column contains more info supporting the classification, including citations, the comment on classification, and comprehensive proof delivered as observations of your variant because of the submitter.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the influence of sequence changes on RNA splicing advise that this variant may develop or fortify a splice web site. In summary, the offered evidence is at the moment insufficient to ascertain the job of this variant in illness. Therefore, it's been categorized to be a Variant of Uncertain Significance. Okay
These citations are determined by LitVar using the rs number, so They could include things like citations for multiple variant at login thr777 this place. Please assessment the LitVar benefits diligently on your variant of fascination. Record previous updated May possibly 19, 2024
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The worldwide insignificant allele frequency calculated through the one thousand Genomes Job. The minor allele at this spot is indicated in parentheses and could be different from the allele represented by this VCV document.
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