The result in the variant on RNA or protein perform, depending on experimental evidence from submitters.
This sequence improve influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in folks influenced with GAA-related problems.
There isn't any functional evidence in ClinVar for this variation. For those who have generated functional information for this variation, make sure you contemplate submitting that information to ClinVar.
This column contains more info supporting the classification, which include citations, the touch upon classification, and comprehensive evidence delivered as observations of your variant by the submitter.
The issue for the classification, supplied by the submitter for this submitted (SCV) history. This column also consists of the impacted standing and allele origin of individuals noticed with this particular variant.
The combination germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to a drug. This value is calculated by NCBI depending on knowledge from submitters. Browse our rules for calculating the combination classification.
Read our rules for calculating the review position. This column also includes a website link on the submitter’s assertion conditions if provided, and the gathering system.
The submitting organization for this submitted (SCV) record. This column also features the SCV accession and Variation range, the date this SCV initially appeared in ClinVar, along with the day that this SCV was previous up to date in ClinVar.
These citations are recognized by LitVar using the rs number, so They might include things like citations for more than one variant at this thr777 spot. Be sure to overview the LitVar effects meticulously in your variant of fascination. Document very last up-to-date May 19, 2024
Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide construction and comparison of computational instruments that forecast their utilization.
Stars stand for the combination critique standing, or the extent of critique supporting the aggregate germline classification for this VCV record.
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Stars symbolize the assessment status, or the extent of critique supporting the submitted (SCV) report. This worth is calculated by NCBI determined by knowledge through the submitter.