thr777 No Further a Mystery
thr777 No Further a Mystery
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the influence of sequence modifications on RNA splicing propose that this variant may possibly build or reinforce a splice site. In summary, the obtainable proof is presently insufficient to ascertain the role of the variant in condition. Hence, it's been classified being a Variant of Unsure Importance.
This sequence alter has an effect on codon 777 on the GAA mRNA. It's really a 'silent' adjust, meaning that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been reported while in the literature in individuals impacted with GAA-similar circumstances.
This day signifies the final time this VCV file was up to date. The update could possibly be because of an update to one of the bundled submitted information (SCVs), or as a consequence of an update that ClinVar designed to the variant including adding HGVS expressions or a rs range.
The worldwide minor allele frequency calculated via the 1000 Genomes Venture. The small allele at this site is indicated in parentheses and should be distinct within the allele represented by this VCV history.
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There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, remember to take into consideration publishing that information and facts to ClinVar.
The distributing Business for this submitted (SCV) record. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, as well as date that this SCV was final current in ClinVar.
These citations are determined by LitVar using the rs number, so They might consist of citations for multiple variant at this location. Please assessment the LitVar effects carefully for your personal variant of curiosity. File last updated May possibly 19, 2024
Aberrant five' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational resources that forecast their utilization.
Stars represent the combination evaluate position, or the level of evaluate supporting the mixture germline classification for this VCV document.
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