ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence adjustments on RNA splicing propose that this variant may possibly make or improve a splice web page. In summary, the accessible proof is now inadequate to find out the position of this variant in illness. Therefore, it's been labeled being a Variant of Uncertain Importance.
This sequence alter has an effect on codon 777 on the GAA mRNA. It's a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Portion of the consensus splice site 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 individuals impacted with GAA-linked conditions.
There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to take into consideration publishing that knowledge to ClinVar.
This column contains more information supporting the classification, together with citations, the comment on classification, and detailed proof supplied as observations of your variant with the submitter.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of individuals observed with this particular variant.
The aggregate germline classification for this variant, generally for your monogenic or Mendelian condition as in the ACMG/AMP rules, or for reaction to some drug. This price is calculated by NCBI based on information from submitters. Read through our guidelines for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, please contemplate submitting that info to ClinVar.
The publishing Firm for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day this SCV was previous current in ClinVar.
These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this site. Please overview the LitVar results very carefully for your personal variant of interest. File very last current Might 19, 2024
Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.
Stars represent the combination assessment status, or the extent of assessment supporting the combination germline classification for this VCV file.
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