ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the outcome of sequence alterations on RNA splicing recommend that this variant might make or improve a splice web page. In summary, the accessible evidence is at this time inadequate to determine the purpose of this variant in condition. Therefore, it has been categorised for a Variant of Uncertain Significance.
This sequence adjust has an effect on codon 777 of your GAA mRNA. This is a 'silent' alter, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons affected with GAA-connected disorders.
There isn't any useful proof in ClinVar for this variation. In case you have generated useful knowledge for this variation, you should look at distributing that info to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.
The issue for your classification, supplied by the submitter for this submitted (SCV) document. This column also incorporates the impacted 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 inside the ACMG/AMP pointers, or for reaction to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the mixture classification.
There isn't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, please take into consideration submitting that data to ClinVar.
The volume of variants in ClinVar which have been contained within just this gene, by using a url to see the listing of variants.
These citations are discovered by LitVar using the rs range, so They might contain citations for multiple variant at this area. Be sure to assessment the LitVar success very carefully for your personal variant of interest. File final up-to-date May perhaps 19, 2024
Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.
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