ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the effect of sequence variations on RNA splicing advise this variant may perhaps develop or fortify a splice web site. In summary, the obtainable proof is at the moment inadequate to determine the role of the variant in ailment. Therefore, it has been categorised for a Variant of Unsure Importance.
This sequence transform has an effect on codon 777 from the GAA mRNA. It's really a 'silent' transform, which means that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is A part of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted while in the literature in individuals influenced with GAA-relevant problems.
This day signifies the final time this VCV record was current. The update may very well be as a result of an update to among the involved submitted documents (SCVs), or as a consequence of an update that ClinVar manufactured on the variant such as incorporating HGVS expressions or a rs quantity.
The worldwide slight allele frequency calculated from the one thousand Genomes Challenge. The small allele at this spot is indicated in parentheses and should be distinct from the allele represented by this VCV record.
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There won't be any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, please consider submitting that data to ClinVar.
The distributing Corporation for this submitted (SCV) record. This column also includes the SCV accession and Model range, the date this SCV very first appeared in ClinVar, and also the day this SCV was last updated in ClinVar.
These citations are discovered by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this location. You should critique the LitVar final results cautiously in your variant of interest. Document very last current Might 19, 2024
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Stars depict the mixture overview standing, or the extent of evaluation supporting the mixture germline classification for this VCV history.
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