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 forecast the effect of sequence alterations on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the offered evidence is at present insufficient to ascertain the job of the variant in disorder. Hence, it's been categorized as being a Variant of Unsure Importance.
This price is calculated by NCBI depending on information from submitters. Read our procedures for calculating the critique status. The volume of submissions which lead to this evaluation position is proven in parentheses.
There is no practical proof in ClinVar for this variation. If you have generated functional facts for this variation, remember to consider publishing that knowledge to ClinVar.
The worldwide insignificant allele frequency calculated with the one thousand Genomes Undertaking. The slight allele at this locale is indicated in parentheses and will be unique from your allele represented by this VCV history.
The issue to the classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of individuals noticed with this particular variant.
The combination germline classification for this variant, typically for any monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.
Read through our rules for calculating the review status. This column also features a link for the submitter’s assertion criteria if offered, and the collection approach.
The submitting 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 thr777 day this SCV was final current in ClinVar.
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Stars characterize the aggregate review position, or the level of review supporting the mixture germline classification for this VCV record.
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Stars signify the evaluation status, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI according to information from the submitter.