ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the effect of sequence modifications on RNA splicing counsel this variant may generate or improve a splice site. In summary, the obtainable evidence is at this time insufficient to find out the purpose of this variant in condition. Therefore, it has been classified as being a Variant of Unsure Significance.
This value is calculated by NCBI based on data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this review standing is shown in parentheses.
This day represents the last time this VCV history was updated. The update could possibly be because of an update to among the list of included submitted information (SCVs), or on account of an update that ClinVar built to the variant including including HGVS expressions or possibly a rs number.
The worldwide minor allele frequency calculated through the a thousand Genomes Task. The slight allele at this spot is indicated in parentheses and will be distinctive in the allele represented by this VCV document.
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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 some drug. This benefit is calculated by NCBI depending on facts from submitters. Read our guidelines thr777 for calculating the aggregate classification.
Study our principles for calculating the assessment status. This column also features a url on the submitter’s assertion requirements if supplied, and the gathering strategy.
The distributing Corporation for this submitted (SCV) file. This column also consists of the SCV accession and Variation amount, the day this SCV very first appeared in ClinVar, and the date this SCV was past up to date in ClinVar.
These citations are determined by LitVar utilizing the rs quantity, so They could involve citations for more than one variant at this site. Make sure you evaluate the LitVar final results diligently for the variant of desire. Document previous up to date Could 19, 2024
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Stars depict the aggregate review standing, or the level of evaluate supporting the mixture germline classification for this VCV document.
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