ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the impact of sequence variations on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the offered evidence is at present insufficient to ascertain the job of the variant in ailment. For that reason, it has been classified to be a Variant of Unsure Importance.
This sequence improve affects codon 777 from the GAA mRNA. It's really a 'silent' modify, meaning that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Element of the consensus splice web-site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been described from the literature in people impacted with GAA-connected circumstances.
This day represents the last time this VCV history was updated. The update could possibly be as a result of an update to on the list of integrated submitted information (SCVs), or as a consequence of an update that ClinVar produced for the variant for example including HGVS expressions or maybe a rs selection.
The global insignificant allele frequency calculated via the one thousand Genomes Task. The small allele at this area is indicated in parentheses and could be distinct through the allele represented by this VCV file.
The situation to the classification, supplied by the submitter for this submitted (SCV) document. This column also involves the affected standing and allele origin of people thr777 observed with this variant.
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Browse our procedures for calculating the evaluate standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection method.
The quantity of variants in ClinVar which have been contained inside this gene, which has a backlink to look at the listing of variants.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this place. You should evaluation the LitVar effects cautiously on your variant of desire. Document previous up-to-date May 19, 2024
Aberrant 5' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational instruments that forecast their utilization.
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The volume of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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