ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the impact of sequence variations on RNA splicing counsel this variant may well build or improve a splice website. In summary, the out there proof is now inadequate to determine the position of this variant in disease. As a result, it's been labeled being a Variant of Unsure Significance.
This sequence change affects codon 777 with the GAA mRNA. It is just a 'silent' modify, that means that it does not change the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Portion of the consensus splice web-site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in individuals influenced with GAA-relevant problems.
There is not any useful proof in ClinVar for this variation. For those who have created functional data for this variation, make sure you consider publishing that details to ClinVar.
This column features additional information supporting the classification, like citations, the comment on classification, and in-depth evidence provided as observations of the variant because of the submitter.
The ailment for the classification, supplied by the submitter for this submitted (SCV) document. This column also features the impacted status and allele origin of people noticed with this variant.
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The publishing Firm for this submitted (SCV) document. This column also consists of the SCV accession and Variation range, the day this SCV very first appeared in ClinVar, and the date that this SCV was very last current in ClinVar.
These citations are determined by LitVar utilizing the rs variety, so They could consist of citations for multiple variant at this place. Please assessment the LitVar benefits carefully for your personal variant of curiosity. Document final up to date May perhaps 19, 2024
Aberrant 5' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
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The amount of variants in ClinVar for this gene, which include lesser variants throughout the thr777 gene and bigger CNVs that overlap or thoroughly comprise the gene.
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Stars signify the evaluation position, or the extent of overview supporting the submitted (SCV) file. This price is calculated by NCBI based upon facts with the submitter.