ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively typical cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the impact of sequence improvements on RNA splicing propose that this variant may perhaps build or improve a splice web-site. In summary, the readily available evidence is presently inadequate to find out the role of the variant in condition. As a result, it's been classified as a Variant of Unsure Importance.
This price is calculated by NCBI determined by data from submitters. Browse our procedures for calculating the overview position. The volume of submissions which add to this evaluation standing is proven in parentheses.
This day signifies the final time this VCV record was up-to-date. The update may be as a result of an update to one of many integrated submitted data (SCVs), or as a consequence of an update that ClinVar designed to the variant such as including HGVS expressions or possibly a rs number.
The global minor allele frequency calculated from the one thousand Genomes Job. The insignificant allele at this site is indicated in parentheses and will be different with the allele represented by this VCV document.
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The combination germline classification for this variant, typically for just a monogenic or Mendelian dysfunction as from the ACMG/AMP pointers, or for response to your drug. This benefit is calculated by NCBI based upon details from submitters. Go through our procedures for calculating the aggregate classification.
There aren't any citations for germline classification of this thr777 variant in ClinVar. If you understand of citations for this variation, you should think about submitting that details to ClinVar.
The number of variants in ClinVar which might be contained inside this gene, with a connection to watch the list of variants.
These citations are discovered by LitVar using the rs quantity, so they may involve citations for more than one variant at this area. Please evaluate the LitVar final results carefully on your variant of desire. Document previous current Might 19, 2024
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The quantity of variants in ClinVar for this gene, such as scaled-down variants within the gene and bigger CNVs that overlap or fully consist of the gene.
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