ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the influence of sequence alterations on RNA splicing propose this variant may build or strengthen a splice internet site. In summary, the accessible evidence is currently insufficient to find out the function of the variant in sickness. As a result, it's been categorised as being a Variant of Uncertain Significance.
This sequence improve impacts codon 777 on the GAA mRNA. This is a 'silent' alter, this means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Portion of the consensus splice website for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented within the literature in folks afflicted with GAA-relevant ailments.
This date signifies the last time this VCV document was current. The update may be on account of an update to one of several incorporated submitted documents (SCVs), or because of an update that ClinVar designed towards the variant which include including HGVS expressions or even a rs selection.
This column includes additional information supporting the classification, which includes citations, the comment on classification, and comprehensive proof presented as observations from the variant because of the submitter.
The problem for that classification, furnished by the submitter for this submitted (SCV) document. This column also features the affected status and allele origin of people noticed using this variant.
The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, remember to consider submitting that information to ClinVar.
The distributing Firm for this submitted (SCV) record. This column also incorporates the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, plus the date that this SCV was past updated in ClinVar.
This website is employing a protection assistance to guard itself from on-line attacks. The motion you simply performed induced the safety Alternative. There are lots of actions which could induce this block which include submitting a particular phrase or phrase, a SQL command or malformed data.
Aberrant 5' splice web pages in human disorder genes: mutation pattern, nucleotide framework and comparison of computational instruments that forecast their utilization.
Stars characterize the mixture evaluation position, or the level of overview supporting the combination germline classification for thr777 this VCV file.
The location is secure. The https:// assures that you'll be connecting for the Formal website and that any data you deliver is encrypted and transmitted securely.
The positioning is safe. The https:// makes sure that you are connecting on the Formal Web-site Which any information you supply is encrypted and transmitted securely.
The location is secure. The https:// guarantees that you are connecting into the official Web site Which any data you offer is encrypted and transmitted securely.