ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing advise that this variant could make or improve a splice web site. In summary, the readily available proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorized for a Variant of Unsure Importance.
This sequence change has an effect on codon 777 on the GAA mRNA. It's a 'silent' modify, that 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, that's A part of the consensus splice web site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described from the literature in persons impacted with GAA-linked situations.
This day signifies the last time this VCV document was current. The update could possibly be as a result of an update to among the list of included submitted records (SCVs), or on account of an update that ClinVar designed to your variant which include adding HGVS thr777 expressions or simply a rs quantity.
The worldwide slight allele frequency calculated by the 1000 Genomes Challenge. The small allele at this place is indicated in parentheses and should be various with the allele represented by this VCV record.
The issue for that classification, furnished by the submitter for this submitted (SCV) document. This column also involves the impacted status and allele origin of people observed using this variant.
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Read our rules for calculating the review position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection technique.
The volume of variants in ClinVar which have been contained within just this gene, using a hyperlink to perspective the list of variants.
These citations are determined by LitVar utilizing the rs amount, so They could consist of citations for multiple variant at this place. You should review the LitVar benefits carefully on your variant of desire. Record final up-to-date May perhaps 19, 2024
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Stars stand for the mixture critique standing, or the extent of overview supporting the aggregate germline classification for this VCV history.
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