ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the effect of sequence adjustments on RNA splicing suggest that this variant may possibly make or reinforce a splice web page. In summary, the offered evidence is at present inadequate to determine the job of the variant in disease. For that reason, it has been labeled for a Variant of Uncertain Significance.

This sequence alter has an effect on codon 777 on the GAA mRNA. It is just a 'silent' alter, this means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described inside the literature in people today affected with GAA-connected disorders.

This date signifies the final time this VCV record was up to date. The update might be as a consequence of an update to one of many bundled submitted documents (SCVs), or as a result of an update that ClinVar designed into the variant such as introducing HGVS expressions or possibly a rs range.

The worldwide small 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 document.

The site is safe. The https:// ensures that you will be connecting towards the Formal Site and that any information and facts 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 facts you provide is encrypted and transmitted securely.

There isn't any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.

The quantity of variants in ClinVar that happen to be contained in this gene, using a link to perspective the list of variants.

These citations are recognized by LitVar utilizing the rs range, so they may include things like citations for more than one variant at this site. Remember to evaluate the LitVar success carefully in your variant of interest. File very last updated Could 19, 2024 

Aberrant 5' splice websites in human disease genes: mutation sample, nucleotide framework and comparison of computational equipment that forecast their utilization.

The positioning is secure. The https:// ensures that you are connecting into the official Web-site and that any information and facts you present is encrypted and transmitted securely.

The site is safe. The https:// makes sure that you're connecting to your Formal Site Which any information and facts you supply is encrypted and transmitted securely.

The internet site is secure. The https:// guarantees that you will be connecting to your Formal website and that any details you give is encrypted and transmitted securely.

The website is safe. The https:// guarantees that thr777 you are connecting to the Formal Site Which any facts you supply is encrypted and transmitted securely.