ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence changes on RNA splicing suggest this variant may well build or fortify a splice site. In summary, the out there evidence is presently inadequate to determine the role of the variant in disorder. Thus, it has been classified as a Variant of Unsure Significance.

This worth is calculated by NCBI according to details from submitters. Examine our policies for calculating the assessment position. The quantity of submissions which contribute to this critique status is revealed in parentheses.

There is absolutely no useful evidence in ClinVar for this variation. In case you have produced functional information for this variation, make sure you think about submitting that information to ClinVar.

The global insignificant allele frequency calculated via the 1000 Genomes Task. The small allele at this place is indicated in parentheses and could be unique through the allele represented by this VCV document.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the influenced status and allele origin of individuals noticed with this variant.

The mixture germline classification for this variant, commonly for the monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to a drug. This value is calculated by NCBI according to info from submitters. Read through our policies for calculating the mixture classification.

There are no citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, you should look at distributing that data to ClinVar.

The number of variants in ClinVar which have been contained within just this gene, by using a website link to view the listing of variants.

These citations are discovered by LitVar utilizing the rs variety, so They could contain citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently for the variant of fascination. History previous current Might 19, 2024 

Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.

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The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly have the gene.

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