ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence changes on RNA splicing counsel this variant may possibly make or strengthen a splice internet site. In summary, the obtainable evidence is presently insufficient to ascertain the purpose of the variant in disease. As a result, it's been categorized being a Variant of Uncertain Importance.

This value is calculated by NCBI based upon information from submitters. Read our procedures for calculating the critique standing. The number of submissions which lead to this evaluation position is proven in parentheses.

There isn't any practical evidence in ClinVar for this variation. For those who have produced functional information for this variation, make sure you take into account distributing that information to ClinVar.

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

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The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as from the ACMG/AMP guidelines, 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.

Go through our regulations for calculating the critique status. This column also includes a link towards the submitter’s assertion requirements if delivered, and the collection technique.

The distributing organization for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV to start with appeared in ClinVar, as well as date that this SCV was past up-to-date in ClinVar.

These citations are determined by LitVar using the rs number, so they may contain citations for multiple variant at this place. You should evaluate the LitVar final results thoroughly for your variant of interest. Record last up-to-date May perhaps 19, 2024 

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Stars signify the combination critique standing, or the level of overview supporting the combination germline classification for this VCV document.

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