ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence improvements on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the offered evidence is now insufficient to determine the role 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 overview standing. The number of submissions which lead to this evaluation position is proven in parentheses.
There is not any purposeful proof in ClinVar for this variation. When you've got created useful knowledge for this variation, remember to look at distributing that info to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this location is indicated in parentheses and will be unique from the allele represented by this VCV document.
The ailment to the classification, provided by the submitter for this submitted (SCV) history. This column also involves the affected standing and allele origin of people noticed with this particular variant.
The mixture germline classification for this variant, usually for just a monogenic or Mendelian dysfunction as within the ACMG/AMP tips, or for response to a drug. This benefit is calculated by NCBI determined by knowledge from submitters. Study our policies for calculating the aggregate classification.
Study our guidelines for calculating the review position. This thr777 column also includes a website link on the submitter’s assertion criteria if provided, and the gathering strategy.
The submitting Corporation for this submitted (SCV) file. This column also includes the SCV accession and Model quantity, the day this SCV 1st appeared in ClinVar, and also the day this SCV was final current in ClinVar.
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Aberrant 5' splice websites in human ailment genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
Stars signify the mixture overview status, or the level of critique supporting the aggregate germline classification for this VCV record.
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Stars represent the evaluate position, or the level of overview supporting the submitted (SCV) document. This value is calculated by NCBI according to knowledge through the submitter.