ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence changes on RNA splicing suggest that this variant might develop or bolster a splice internet site. In summary, the available proof is now inadequate to find out the part of this variant in illness. Thus, it's been labeled being a Variant of Unsure Significance.
This sequence modify has an effect on codon 777 on the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be Portion of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted inside the literature in persons impacted with GAA-related problems.
There's no practical evidence in ClinVar for this variation. When you have generated functional data for this variation, please consider submitting that information to ClinVar.
The global insignificant allele frequency calculated via the one thousand Genomes Task. The small allele at this site is indicated in parentheses and may be distinctive from your allele represented by this VCV document.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed using this variant.
The mixture germline classification for this variant, commonly for just a monogenic or Mendelian disorder as during the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI according to information from submitters. Go through our regulations for calculating the combination classification.
Read through our policies for calculating the overview status. This column also features a backlink on the submitter’s assertion requirements if supplied, and the gathering system.
The amount of variants in ClinVar which can be contained inside this gene, which has a backlink to check out the listing of variants.
These citations are identified by LitVar using the rs variety, so They could involve citations for multiple variant at this locale. Remember to review the LitVar benefits diligently to your variant of fascination. Report final up to date May well 19, thr777 2024
Aberrant 5' splice web-sites in human condition genes: mutation sample, nucleotide construction and comparison of computational resources that forecast their utilization.
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The volume of variants in ClinVar for this gene, together with lesser variants throughout the gene and larger CNVs that overlap or absolutely have the gene.
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Stars depict the critique standing, or the level of review supporting the submitted (SCV) history. This benefit is calculated by NCBI based upon facts with the submitter.