ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence improvements on RNA splicing counsel this variant might develop or bolster a splice internet site. In summary, the available proof is now inadequate to find out the position of this variant in illness. As a result, it has been categorised for a Variant of Unsure Significance.
This sequence improve influences codon 777 in the GAA mRNA. It's really a 'silent' alter, that means that it doesn't change the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Element of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described within the literature in men and women affected with GAA-linked situations.
There is no purposeful evidence in ClinVar for this variation. When you've got created useful facts for this variation, you should consider publishing that facts to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV file.
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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into account publishing that details to ClinVar.
The distributing Business for this submitted (SCV) record. This column also incorporates the SCV accession and Edition number, the date this SCV 1st appeared in ClinVar, along with the day this SCV was previous up-to-date in ClinVar.
These citations are identified by LitVar using the rs number, so They could involve citations for multiple variant at this locale. Make sure you evaluate the LitVar final results thoroughly for the variant of fascination. History last up to date May perhaps 19, 2024
Aberrant five' splice websites in human disorder genes: mutation pattern, nucleotide framework and comparison of computational applications that forecast their utilization.
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The volume of variants in ClinVar for this gene, including smaller variants inside the gene and bigger CNVs that overlap or completely have the gene.
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Stars stand for the evaluate position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI according to information from the submitter.