ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing advise this variant may well build or fortify a splice site. In summary, the obtainable evidence is presently inadequate to ascertain the role of the variant in disease. For that reason, it has been categorized as a Variant of Unsure Significance.
This benefit is calculated by NCBI based upon facts from submitters. Go through our procedures for calculating the overview status. The amount of submissions which add to this overview status is demonstrated in parentheses.
This day signifies the final time this VCV record was updated. The update can be because of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar manufactured into the variant such as adding HGVS expressions or perhaps a rs amount.
The global insignificant allele frequency calculated via the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and could be unique through the allele represented by this VCV document.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also involves the afflicted position and allele origin of individuals noticed with this particular variant.
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There are no citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, be sure to contemplate distributing that data to ClinVar.
The distributing Firm for this submitted (SCV) file. This column also involves the SCV accession and Edition amount, the day this SCV to start with appeared in ClinVar, and the date this SCV was last up-to-date in ClinVar.
These citations are identified by LitVar utilizing the rs amount, so They could include things like citations for multiple variant at this area. Be sure to assessment the LitVar results diligently to your variant of fascination. History last updated May well 19, 2024
Aberrant five' splice web sites in human sickness genes: mutation pattern, nucleotide construction and comparison of computational instruments that forecast their utilization.
Stars characterize the mixture overview status, or the level of evaluate supporting the aggregate germline classification for this VCV document.
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