ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing recommend that this variant may possibly develop or bolster a splice internet site. In summary, the available evidence is at present insufficient to find out the position of the variant in sickness. Therefore, it's been categorized as being a Variant of Uncertain Importance.
This worth is calculated by NCBI determined by info from submitters. Examine our policies for calculating the assessment position. The quantity of submissions which contribute to this critique position is proven in parentheses.
This day signifies the final time this VCV document was updated. The update could possibly be because of an update to one of the incorporated submitted information (SCVs), or as a result of an update that ClinVar designed to the variant which include introducing HGVS expressions or perhaps a rs amount.
This column contains more information supporting the classification, including citations, the touch upon classification, and comprehensive evidence offered as observations of the variant because of the submitter.
The condition for the classification, supplied by the submitter for this submitted (SCV) document. This column also consists of the affected status and allele origin of individuals noticed with this particular variant.
The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to your drug. This price is calculated by NCBI depending on info from submitters. Examine our procedures for calculating the aggregate classification.
Study our guidelines for calculating the overview standing. This column also includes a connection on the submitter’s assertion criteria if supplied, and the collection strategy.
The number of variants in ClinVar which have been contained inside this gene, having a backlink to watch the listing of variants.
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Aberrant 5' splice web sites in human disorder genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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