ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the result of sequence adjustments on RNA splicing propose this variant may well build or strengthen a splice site. In summary, the out there proof is currently insufficient to find out the function of this variant in ailment. Consequently, it has been labeled as being a Variant of Unsure Significance.
This sequence change influences codon 777 with the GAA mRNA. This is a 'silent' transform, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been noted during the literature in folks influenced with GAA-related situations.
There is no functional proof in ClinVar for this variation. When you've got created useful facts for this variation, please consider publishing that facts to ClinVar.
The worldwide slight allele frequency calculated with the one thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be distinct within the allele represented by this thr777 VCV report.
The condition for your classification, furnished by the submitter for this submitted (SCV) file. This column also involves the affected status and allele origin of people noticed with this particular variant.
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The distributing organization for this submitted (SCV) report. This column also involves the SCV accession and Model variety, the date this SCV first appeared in ClinVar, and also the day this SCV was final current in ClinVar.
These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for more than one variant at this locale. Make sure you evaluate the LitVar outcomes thoroughly to your variant of fascination. History final up-to-date May perhaps 19, 2024
Aberrant 5' splice websites in human illness genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
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The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely have the gene.
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Stars stand for the evaluate status, or the extent of critique supporting the submitted (SCV) report. This worth is calculated by NCBI determined by info from your submitter.