ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing advise this variant may well create or bolster a splice web page. In summary, the accessible proof is currently inadequate to find out the purpose of this variant in condition. As a result, it has been categorised like a Variant of Unsure Importance.
This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which lead to this review standing is shown in parentheses.
There is not any functional evidence in ClinVar for this variation. For those who have created practical information for this variation, please contemplate submitting that info to ClinVar.
The global insignificant allele frequency calculated via the 1000 Genomes Challenge. The slight allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.
The affliction with the classification, supplied by the submitter for this submitted (SCV) file. This column also incorporates the impacted position and allele origin of individuals noticed with this variant.
The aggregate germline classification for this variant, normally for the monogenic or Mendelian disorder as inside the ACMG/AMP pointers, or for response to some drug. This worth is calculated by NCBI based on information from submitters. Go through our policies for calculating the mixture classification.
There aren't any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, please take into account submitting that info to ClinVar.
The thr777 distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the day this SCV initially appeared in ClinVar, and also the day this SCV was last up-to-date in ClinVar.
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Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide composition and comparison of computational applications that predict their utilization.
Stars represent the aggregate evaluate standing, or the level of evaluate supporting the aggregate germline classification for this VCV history.
The volume of variants in ClinVar for this gene, which includes lesser variants in the gene and larger CNVs that overlap or absolutely incorporate the gene.
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