ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence improvements on RNA splicing counsel this variant may possibly make or fortify a splice web page. In summary, the obtainable evidence is at present insufficient to find out the role of this variant in ailment. Hence, it's been labeled for a Variant of Uncertain Importance.
This sequence modify impacts codon 777 in the GAA mRNA. It is just a 'silent' adjust, meaning 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, that's Component of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed within the literature in people today impacted with GAA-connected problems.
There is no functional evidence in ClinVar for this variation. In case you have created useful info for this variation, remember to consider publishing that information to ClinVar.
This column features additional information supporting the classification, like citations, the comment on classification, and thorough evidence provided as observations in the variant via the submitter.
The affliction with the classification, furnished by the submitter for this submitted (SCV) report. This column also incorporates the influenced status and allele origin of people noticed using this type of variant.
The location is protected. The https:// guarantees that you will be connecting to the official Site and that any facts you deliver is encrypted and transmitted securely.
There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that information and facts to ClinVar.
The quantity of variants in ClinVar which can be contained inside this gene, with a backlink to look at the list of variants.
These citations are identified by LitVar using the rs range, so they may incorporate citations for multiple variant at this area. Be sure to evaluation the LitVar effects carefully on your variant of desire. Record final up-to-date May perhaps 19, 2024
Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
The positioning is secure. The https:// makes certain that you're connecting to the official website and that any information you give is encrypted and transmitted securely.
The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene thr777 and larger CNVs that overlap or entirely contain the gene.
You are able to e-mail the positioning proprietor to let them know you have been blocked. You should involve what you were performing when this webpage came up and also the Cloudflare Ray ID identified at the bottom of the web site.
The location is safe. The https:// ensures that you'll be connecting to your official website Which any details you provide is encrypted and transmitted securely.