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The aggregate germline classification for this variant, normally for any monogenic or Mendelian dysfunction as inside the ACMG/AMP rules, or for response to your drug. This price is calculated by NCBI according to info from submitters. Read through our principles for calculating the combination classification.
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This sequence change influences codon 777 in the GAA mRNA. It is a 'silent' change, indicating that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, that is Element of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented within the literature in people today impacted with GAA-similar problems.
Stars symbolize the assessment standing, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI depending on knowledge within the submitter.
This worth is calculated by NCBI dependant on information from submitters. Go through our policies for calculating the critique position. The volume of submissions which add to this evaluation status is shown in parentheses.
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the influence of sequence adjustments on RNA splicing advise this variant may produce or improve a splice website. In summary, the offered proof is now insufficient to determine the purpose of the variant in sickness. Consequently, it's been labeled being a Variant of Unsure Importance. Alright
The submitting organization for this submitted (SCV) history. This column also features the SCV accession and Model variety, the date this SCV first appeared in ClinVar, as well as date that this SCV was last up-to-date in ClinVar.
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The worldwide minimal allele frequency calculated via the a thousand Genomes Project. The minor allele at this place is indicated in parentheses and will be various from your allele represented by this VCV file.
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