ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the readily available evidence is at the moment insufficient 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 data from submitters. Browse our procedures for calculating the critique status. The volume of submissions which lead to this review standing is revealed in parentheses.

There is not any purposeful proof in ClinVar for this variation. When you've got created useful details for this variation, make sure you contemplate submitting that data to ClinVar.

The worldwide slight allele frequency calculated from the 1000 Genomes Challenge. The minor allele at this locale is indicated in parentheses and should be distinct from your allele represented by this VCV document.

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The aggregate germline classification for this variant, normally for your monogenic or Mendelian disorder as within the ACMG/AMP suggestions, or for response to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.

There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that facts to ClinVar.

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

These citations are determined by LitVar utilizing the rs quantity, so They might include things like citations for more than one variant thr777 at this area. Be sure to assessment the LitVar success very carefully for your personal variant of interest. File past updated Could 19, 2024 

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