Little Known Facts About thr777.
Little Known Facts About thr777.
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing suggest this variant may produce or reinforce a splice web site. In summary, the readily available proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorized as being a Variant of Unsure Importance.
This sequence transform affects codon 777 of your GAA mRNA. It's really a 'silent' adjust, meaning that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's 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 claimed inside the literature in people today affected with GAA-relevant conditions.
There's no practical evidence in ClinVar for this variation. When you have generated functional data for this variation, be sure to look at distributing that details to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct in the allele represented by this VCV record.
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The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as during the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our regulations for calculating the combination classification.
There won't be any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that details to ClinVar.
The submitting Group for this submitted (SCV) document. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this location. You should review the LitVar benefits carefully to your variant of fascination. History final up to date May well 19, 2024
Aberrant 5' splice websites in human ailment genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars symbolize the aggregate evaluate standing, or the level of critique supporting the aggregate germline classification for this VCV report.
The amount of variants in ClinVar for this gene, together with thr777 more compact variants throughout the gene and larger CNVs that overlap or entirely comprise the gene.
The location is protected. The https:// guarantees that you will be connecting into the Formal Web site and that any data you present is encrypted and transmitted securely.
Stars symbolize the assessment status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge from your submitter.