ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence adjustments on RNA splicing suggest this variant might generate or fortify a splice site. In summary, the obtainable evidence is presently insufficient to ascertain the job of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.
This sequence alter has an effect on codon 777 on the GAA mRNA. It is a 'silent' improve, which means that it doesn't alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Component of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented within the literature in folks impacted with GAA-relevant ailments.
There is absolutely no functional evidence in ClinVar for this variation. For those who have generated useful information for this variation, be sure to take into consideration submitting that details to ClinVar.
This column consists of more info supporting the classification, which include citations, the comment on classification, and detailed proof supplied as observations of the variant because of the submitter.
The website is safe. The https:// ensures that you will be connecting towards the official Web-site and that any data you provide is encrypted and transmitted securely.
The positioning is protected. The https:// ensures you are connecting to your Formal Web site and that any information you supply is encrypted and transmitted securely.
There isn't any citations for germline classification of this variant in ClinVar. If thr777 you understand of citations for this variation, remember to take into consideration publishing that data 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 discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this locale. Please critique the LitVar results meticulously for your variant of curiosity. Report past updated May possibly 19, 2024
Aberrant 5' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
Stars represent the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV history.
The website is safe. The https:// ensures you are connecting into the official Internet site Which any information you give is encrypted and transmitted securely.
The internet site is secure. The https:// guarantees that you will be connecting to the official Site Which any info you give is encrypted and transmitted securely.
The website is protected. The https:// makes certain you are connecting for the Formal Web page and that any information you deliver is encrypted and transmitted securely.