thr777 Secrets
thr777 Secrets
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the result of sequence changes on RNA splicing advise that this variant may well create or fortify a splice web site. In summary, the out there evidence is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorized for a Variant of Uncertain Significance.
This sequence adjust impacts codon 777 in the GAA mRNA. It is a 'silent' adjust, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Element of the consensus splice internet site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed within the literature in persons influenced with GAA-similar problems.
This date signifies the final time this VCV file was updated. The update may be due to an update to among the list of involved submitted data (SCVs), or resulting from an update that ClinVar manufactured into the variant for instance incorporating HGVS expressions or even a rs selection.
The global minor allele frequency calculated via the thr777 1000 Genomes Venture. The minimal allele at this spot is indicated in parentheses and could be different in the allele represented by this VCV file.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that information and facts to ClinVar.
The number of variants in ClinVar which have been contained in just this gene, that has a url to see the listing of variants.
These citations are identified by LitVar utilizing the rs quantity, so They could contain citations for multiple variant at this area. You should evaluation the LitVar effects diligently in your variant of interest. File past updated Could 19, 2024
Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that predict their utilization.
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