thr777 No Further a Mystery

thr777 No Further a Mystery

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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing recommend that this variant might develop or bolster a splice internet site. In summary, the out there proof is at this time inadequate to ascertain the function of the variant in sickness. Therefore, it's been labeled being a Variant of Unsure Significance.

This sequence change influences codon 777 in the GAA mRNA. This is a 'silent' change, meaning that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been reported from the literature in people impacted with GAA-connected problems.

There is no purposeful proof in ClinVar for this variation. When you've got created useful data for this variation, remember to contemplate publishing that information to ClinVar.

This column incorporates additional information supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations with the variant through the submitter.

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The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for response into a drug. This price is calculated by NCBI dependant on data from submitters. Study our policies for calculating the mixture classification.

There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that information and facts to ClinVar.

The submitting Group for this submitted (SCV) document. This column also features the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.

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Stars depict the combination evaluate position, or the level of review supporting the combination germline classification for this VCV history.

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Stars characterize the critique standing, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on data from the submitter.