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 designed to predict the influence of sequence improvements on RNA splicing suggest that this variant may well create or strengthen a splice site. In summary, the available evidence is at the moment inadequate to find out the part of the variant in sickness. Consequently, it's been labeled as a Variant of Uncertain Importance.
This price is calculated by NCBI based upon details from submitters. Read our principles for calculating the overview status. The amount of submissions which contribute to this assessment position is demonstrated in parentheses.
This day signifies the last time this VCV file was current. The update could be as a result of an update to one of several bundled submitted data (SCVs), or resulting from an update that ClinVar created on the variant such as introducing HGVS expressions or even a rs amount.
The global minor allele frequency calculated with the a thousand Genomes Venture. The minor allele at this area is indicated in parentheses and should be distinctive with the allele represented by this VCV report.
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The aggregate germline classification for this variant, ordinarily for the monogenic or Mendelian problem as while in the ACMG/AMP recommendations, or for reaction to your drug. This value is calculated by NCBI based on data from submitters. Study our procedures for calculating the mixture classification.
There won't be any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, you should look at submitting that data to ClinVar.
The publishing Firm for this submitted (SCV) file. This column also consists of the SCV accession and Model range, the day this SCV to start with appeared in ClinVar, as well as day that this SCV was last up to date in ClinVar.
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Stars symbolize the aggregate critique position, or the level of evaluate supporting the combination germline classification for this VCV history.
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