ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the result of sequence alterations on RNA splicing advise this variant could build or bolster a splice web site. In summary, the out there evidence is now inadequate to find out the role of this variant in disorder. For that reason, it has been labeled as a Variant of Uncertain Significance.

This value is calculated by NCBI based on information from submitters. Browse our procedures for calculating the evaluation standing. The amount of submissions which contribute to this evaluation status is proven in parentheses.

There is no purposeful proof in ClinVar for this variation. When you've got created purposeful facts for this variation, you should look at distributing that knowledge to ClinVar.

The global small allele frequency calculated from the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.

The issue for that classification, supplied by the submitter for this submitted (SCV) file. This column also involves the impacted status and allele origin of people noticed with this particular variant.

The combination germline classification for this variant, typically to get a monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Read through our procedures for calculating the mixture classification.

Examine our regulations for calculating the critique standing. This column also includes a connection to your submitter’s assertion standards if offered, and the gathering system.

The quantity of variants in ClinVar which might be contained inside this gene, with a backlink to look at the listing of variants.

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Aberrant 5' splice web sites in human condition thr777 genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.

Stars symbolize the combination critique standing, or the level of evaluate supporting the mixture germline classification for this VCV record.

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