ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing advise this variant may well create or improve a splice web page. In summary, the accessible 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 improve influences codon 777 from the GAA mRNA. It is just a 'silent' modify, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Portion 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 reported while in the literature in men and women affected with GAA-linked situations.
This day signifies the last time this VCV document was up-to-date. The update may be resulting from an update to among the provided submitted documents (SCVs), or due to an update that ClinVar created on the variant including adding HGVS expressions or simply a rs range.
This column features more info supporting the classification, like citations, the comment on classification, and in-depth evidence provided as observations with the variant with the submitter.
The positioning is secure. The https:// ensures that you'll be connecting towards the Formal Internet site Which any info you give is encrypted and transmitted securely.
The positioning is safe. The https:// makes certain that you're connecting towards the Formal Web site and that any facts you supply is encrypted and transmitted securely.
There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, make sure you think about distributing that info to ClinVar.
The distributing Group for this submitted (SCV) document. This column also contains the SCV accession and version selection, the date this SCV 1st appeared in ClinVar, and also the date that this SCV was past updated in ClinVar.
These citations are discovered by LitVar utilizing the rs range, so they may involve citations for more than one variant at this site. Make sure you evaluate the LitVar final results carefully in your variant of desire. Document very last current Might 19, 2024
Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
The internet site is safe. The https:// ensures that you will be connecting for the Formal Internet site Which any data you provide is encrypted and transmitted securely.
The volume of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
The internet site is secure. The https:// guarantees thr777 that you will be connecting into the Formal Site and that any data you deliver is encrypted and transmitted securely.
Stars represent the review position, or the extent of assessment supporting the submitted (SCV) file. This value is calculated by NCBI according to data from the submitter.