ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing recommend that this variant could generate or bolster a splice web-site. In summary, the available proof is now inadequate to find out the part of this variant in disease. Therefore, it's been labeled like a Variant of Uncertain Importance.
This sequence modify affects codon 777 on the GAA mRNA. It's really a 'silent' improve, indicating that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Component of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related problems.
This day signifies the final time this VCV record was up to date. The update can be as a result of an update to among the list of included submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs number.
The worldwide minimal allele frequency calculated with the 1000 Genomes Venture. The small allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
The site is safe. The https:// makes sure that you're connecting to your official Site Which any information you supply is encrypted and transmitted securely.
The internet site is secure. The https:// assures that you'll be connecting towards the official Internet site Which any information and facts you supply is encrypted and transmitted securely.
Examine our regulations for calculating the critique standing. This column also includes a connection to your submitter’s assertion standards if offered, and the collection process.
The thr777 quantity of variants in ClinVar which might be contained inside of this gene, having a connection to look at the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this locale. Make sure you critique the LitVar outcomes thoroughly for your variant of curiosity. File very last current Might 19, 2024
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
The internet site is safe. The https:// ensures that you will be connecting for the Formal Internet site Which any data you offer is encrypted and transmitted securely.
The volume of variants in ClinVar for this gene, which includes smaller variants in the gene and bigger CNVs that overlap or completely incorporate the gene.
The site is secure. The https:// makes certain that you will be connecting to the official Internet site Which any information and facts you provide is encrypted and transmitted securely.
The positioning is secure. The https:// makes sure that you will be connecting on the official Web-site and that any info you provide is encrypted and transmitted securely.