ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the impact of sequence modifications on RNA splicing propose that this variant may well build or fortify a splice site. In summary, the offered evidence is presently insufficient to ascertain the role of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.
This worth is calculated by NCBI according to data from submitters. Examine our regulations for calculating the overview status. The volume of submissions which contribute to this evaluate standing is revealed in parentheses.
There's no useful proof in ClinVar for this variation. Should you have generated purposeful data for this variation, make sure you take into account submitting that info to ClinVar.
This column features additional information supporting the classification, which includes citations, the comment on classification, and thorough proof presented as observations of your variant from the submitter.
The problem for your classification, furnished by the submitter for this submitted (SCV) file. This column also consists of the influenced status and allele origin of individuals noticed thr777 with this particular variant.
The combination germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for response to some drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our rules for calculating the combination classification.
Examine our guidelines for calculating the overview standing. This column also includes a website link on the submitter’s assertion standards if offered, and the gathering process.
The quantity of variants in ClinVar that happen to be contained within this gene, using a hyperlink to view the listing of variants.
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