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ClinVar is made up of 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 forecast the impact of sequence modifications on RNA splicing propose this variant might produce or fortify a splice web page. In summary, the obtainable evidence is presently insufficient to ascertain the job of the variant in disease. Thus, it has been classified as being a Variant of Unsure Importance.
This value is calculated by NCBI dependant on facts from submitters. Read our rules for calculating the evaluate standing. The quantity of submissions which lead to this assessment standing is shown in parentheses.
This date represents the last time this VCV report was up to date. The update might be because of an update to among the list of bundled submitted records (SCVs), or as a result of an update that ClinVar designed into the variant like including HGVS expressions or possibly a rs range.
This column incorporates additional information supporting the classification, which includes citations, the touch upon classification, and specific evidence delivered as observations with the variant through the submitter.
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The mixture germline classification for this variant, typically to get a monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for response to some drug. This worth is calculated by NCBI depending on facts from submitters. Browse our procedures for calculating the combination classification.
Go through our principles for calculating the assessment status. This column also features a url on the submitter’s assertion requirements if supplied, and the gathering strategy.
The amount of variants in ClinVar which can be contained inside this gene, which has a backlink to look at the list of variants.
These citations are discovered by LitVar using the rs range, so they may include things like citations for more than one variant at this spot. Please overview the LitVar results meticulously for your variant of curiosity. Report last up to date May well 19, 2024
Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide construction and comparison of computational instruments that predict their utilization.
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The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or absolutely have the gene.
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Stars represent the overview status, or the level of evaluation supporting the submitted (SCV) document. This worth is calculated by NCBI dependant on info with the submitter.