ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence variations on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the offered evidence is now inadequate to find out the purpose of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.
This worth is calculated by NCBI depending on data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this review standing is shown 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 because of an update that ClinVar created into the variant including introducing HGVS expressions or perhaps a rs number.
This column incorporates more details supporting the classification, together with citations, the comment on classification, and comprehensive proof offered as observations of the variant via the submitter.
The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted standing and allele origin of people observed using this variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to contemplate submitting that data to ClinVar.
The publishing Group for this submitted (SCV) document. This column also features the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was past up-to-date in ClinVar.
These citations are identified by LitVar utilizing the rs quantity, so they may consist of citations for more than one variant at this location. Make sure you assessment the LitVar final results diligently to your variant of fascination. History last current May perhaps 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
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The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or entirely incorporate the gene.
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Stars stand for the evaluate standing, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details with the submitter.