ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence variations on RNA splicing propose that this variant may possibly make or improve a splice web page. In summary, the accessible evidence is currently inadequate to ascertain the purpose of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Significance.

This value is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the review position. The amount of submissions which add to this overview status is demonstrated in parentheses.

This day represents the last time this VCV file was up-to-date. The update may be resulting from an update to among the provided submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs number.

The global minor allele frequency calculated via the a thousand Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be unique with the allele represented by this VCV file.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also features the affected standing and allele origin of people observed using this variant.

The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as inside the ACMG/AMP pointers, or for reaction to your drug. This price is calculated by NCBI according to facts from submitters. Read through our regulations for calculating the mixture classification.

There won't be any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that details to ClinVar.

The volume of variants in ClinVar which have been contained in just this gene, by using a website link to view the listing of variants.

These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this location. You should review the LitVar benefits carefully to your variant of interest. File very last current Might 19, 2024 

Aberrant five' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.

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The number of variants in ClinVar for this gene, which include smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.

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Stars depict the overview standing, or the level of evaluate supporting the submitted (SCV) history. This price thr777 is calculated by NCBI based upon facts through the submitter.