ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the influence of sequence modifications on RNA splicing propose that this variant may possibly make or fortify a splice web page. In summary, the obtainable evidence is presently inadequate to ascertain the purpose of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon knowledge from submitters. Go through our guidelines for calculating the review standing. The quantity of submissions which contribute to this review standing is shown in parentheses.
This date represents the final time this VCV file was up-to-date. The update may be as a consequence of an update to among the provided submitted data (SCVs), or due to an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs number.
This column includes more info supporting the classification, like citations, the comment on classification, and in-depth evidence delivered as observations with the variant through the submitter.
The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of people observed using this variant.
The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI based on information from submitters. Study our principles for calculating the aggregate classification.
Read our procedures for calculating the evaluation position. This column also features a website link for the submitter’s assertion criteria if delivered, and the gathering approach.
The number of variants in ClinVar that are contained within just this gene, by using a website link to view the listing of variants.
These citations are discovered by LitVar using the rs variety, so They could thr777 include things like citations for more than one variant at this area. Be sure to assessment the LitVar effects cautiously in your variant of desire. Document past up to date May well 19, 2024
Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
Stars symbolize the combination overview position, or the level of evaluation supporting the combination germline classification for this VCV file.
The amount of variants in ClinVar for this gene, together with more compact variants within the gene and larger CNVs that overlap or absolutely have the gene.
The location is protected. The https:// ensures you are connecting into the Formal Web site and that any details you present is encrypted and transmitted securely.
Stars characterize the evaluate standing, or the level of overview supporting the submitted (SCV) report. This worth is calculated by NCBI determined by info from your submitter.