ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the result of sequence improvements on RNA splicing recommend this variant may perhaps develop or bolster a splice website. In summary, the obtainable evidence is at the moment inadequate to find out the part of this variant in disorder. Hence, it's been classified as being a Variant of Unsure Significance.
This worth is calculated by NCBI determined by info from submitters. Study our rules for calculating the critique position. The volume of submissions which contribute to this evaluation status is proven in parentheses.
This date signifies the final time this VCV history was updated. The update could possibly be because of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar designed on the variant such as adding HGVS expressions or a rs selection.
The global small allele frequency calculated through the a thousand Genomes Project. The minor allele at this location is indicated in parentheses and should be diverse from your allele represented by this VCV report.
The problem to the classification, provided by the submitter for this submitted (SCV) history. This column also features the afflicted position and allele origin of people observed with this variant.
The combination germline classification for this variant, generally for a monogenic or Mendelian dysfunction as within the ACMG/AMP tips, or for reaction to a drug. This value is calculated by NCBI according to data from submitters. Study our principles for calculating the mixture classification.
There won't be any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration thr777 publishing that information and facts to ClinVar.
The volume of variants in ClinVar which have been contained within just this gene, by using a website link to view the listing of variants.
These citations are identified by LitVar utilizing the rs variety, so they may involve citations for more than one variant at this location. Make sure you review the LitVar final results thoroughly in your variant of desire. File past up to date May 19, 2024
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The volume of variants in ClinVar for this gene, which include scaled-down variants inside the gene and larger CNVs that overlap or completely include the gene.
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