ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence changes on RNA splicing suggest that this variant may perhaps build or improve a splice web-site. In summary, the available proof is presently inadequate to ascertain the purpose of this variant in disorder. Thus, it's been labeled as a Variant of Uncertain Significance.
This sequence transform influences codon 777 on the GAA mRNA. This is a 'silent' improve, which means that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is A part of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in men and women affected with GAA-similar situations.
This date represents the final time this VCV history was up-to-date. The update could be resulting from an update to among the involved submitted documents (SCVs), or because of an update that ClinVar built towards the variant such as including HGVS expressions or maybe a rs number.
The worldwide small allele frequency calculated from the one thousand Genomes Task. The slight allele at this place is indicated in parentheses and will be various from the allele represented by this VCV history.
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There won't be any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, remember to take into account submitting thr777 that facts to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.
These citations are discovered by LitVar using the rs range, so They might contain citations for multiple variant at this place. You should evaluation the LitVar benefits carefully on your variant of desire. File past updated May perhaps 19, 2024
Aberrant five' splice internet sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
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Stars depict the assessment position, or the level of review supporting the submitted (SCV) document. This benefit is calculated by NCBI based upon facts through the submitter.