About thr777
About thr777
Blog Article
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence changes on RNA splicing propose that this variant could build or fortify a splice website. In summary, the readily available evidence is at the moment insufficient to determine the role of the variant in disorder. Thus, it has been classified as a Variant of Unsure Importance.
This sequence change influences codon 777 from the GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Component of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described from the literature in folks afflicted with GAA-connected disorders.
There is no functional proof in ClinVar for this variation. When you've got created purposeful facts for this variation, please think about submitting that data to ClinVar.
The worldwide minor allele frequency calculated via the 1000 Genomes Venture. The minimal allele at this area is indicated in parentheses and will be different from the allele represented by this VCV file.
The condition for that classification, provided by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed using this type of variant.
The mixture germline classification for this variant, generally for just a monogenic or Mendelian disorder as within the ACMG/AMP tips, or for response into a drug. This price is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the combination classification.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, be sure to take into consideration submitting that details to ClinVar.
The distributing Group for this submitted (SCV) document. This column also contains the SCV accession and Variation number, the day this SCV initial appeared in ClinVar, along with the date that this SCV was last current in ClinVar.
These citations are discovered by LitVar using the rs selection, so they may include things like citations for multiple variant at this locale. Make sure you assessment the LitVar success thoroughly on your variant of desire. History very last updated May possibly 19, 2024
Aberrant 5' splice web sites in human condition genes: mutation sample, nucleotide structure and comparison of computational tools that forecast their utilization.
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The volume of variants in ClinVar for this gene, which includes more compact variants within the gene and bigger CNVs that overlap or completely consist of the gene.
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Stars signify the critique position, or the level of assessment supporting the submitted (SCV) report. This price is calculated by NCBI based upon details from the submitter.