ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence changes on RNA splicing recommend that this variant might make or reinforce a splice internet site. In summary, the readily available evidence is at present inadequate to determine the position of this variant in condition. Thus, it's been categorized for a Variant of Uncertain Significance.
This sequence improve affects codon 777 of your GAA mRNA. It's really a 'silent' change, which means that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Section of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in people today affected with GAA-linked ailments.
This day signifies the last time this VCV history was up-to-date. The update could be resulting from an update to one of many integrated submitted information (SCVs), or because of an update that ClinVar designed for the variant like including HGVS expressions or possibly a rs selection.
The global minor allele frequency calculated by the a thousand Genomes Task. The slight allele at this area is indicated in parentheses and may be distinctive in the allele represented by this VCV document.
The ailment for the classification, furnished by the submitter for this submitted (SCV) file. This column also consists of the impacted status and allele origin of people noticed with this particular variant.
The combination germline classification for this variant, normally for a monogenic or Mendelian problem as in the ACMG/AMP suggestions, or for response to your drug. This benefit is calculated by NCBI depending on data from submitters. Go through our procedures for calculating the aggregate classification.
There aren't any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, remember to take into consideration publishing that facts to ClinVar.
The volume of variants in ClinVar which can be contained within just this gene, by using a website link to check out the list thr777 of variants.
These citations are determined by LitVar utilizing the rs quantity, so They could consist of citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently to your variant of fascination. Record final up-to-date May perhaps 19, 2024
The location is safe. The https:// makes certain that you'll be connecting to your official website and that any information you deliver is encrypted and transmitted securely.
Stars depict the mixture critique standing, or the extent of critique supporting the mixture germline classification for this VCV record.
The positioning is protected. The https:// guarantees that you will be connecting for the Formal website and that any data you deliver is encrypted and transmitted securely.
The positioning is protected. The https:// ensures that you are connecting for the Formal Web-site Which any information you supply is encrypted and transmitted securely.
The positioning is safe. The https:// assures that you're connecting to the Formal Site Which any facts you supply is encrypted and transmitted securely.