ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence adjustments on RNA splicing propose that this variant may possibly make or fortify a splice web site. In summary, the readily available proof is at this time insufficient to determine the function of this variant in disease. Hence, it's been categorized like a Variant of Uncertain Importance.
This value is calculated by NCBI based on information from submitters. Read our regulations for calculating the review position. The quantity of submissions which contribute to this critique status is demonstrated in parentheses.
This day signifies the final time this VCV history was updated. The update could possibly be because of an update to among the list of bundled submitted records (SCVs), or as a result of an update that ClinVar designed into the variant such as adding HGVS expressions or perhaps a rs amount.
The global insignificant allele frequency calculated via the a thousand Genomes Project. The minimal allele at this place is indicated in parentheses and should be diverse through the allele represented by this VCV document.
The issue to the classification, supplied by the submitter for this submitted (SCV) record. This column also contains the influenced position and allele origin of individuals observed using this type of variant.
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There won't be any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that information to ClinVar.
The submitting Corporation for this submitted (SCV) file. This column also consists of the SCV accession and Model quantity, the day this SCV very first appeared in ClinVar, and the day this SCV was final up-to-date in ClinVar.
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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The quantity of variants in ClinVar for this gene, like smaller sized variants within the gene and bigger CNVs that overlap or entirely consist of the gene.
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