ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the impact of sequence changes on RNA splicing propose that this variant may possibly make or fortify a splice web page. In summary, the obtainable evidence is presently inadequate to ascertain the purpose of this variant in condition. Consequently, it has been categorised for a Variant of Uncertain Importance.

This value is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the critique standing. The quantity of submissions which lead to this evaluate standing is proven in parentheses.

There is no useful proof in ClinVar for this variation. For those who have created purposeful info for this variation, you should think about distributing that data to ClinVar.

The worldwide small allele frequency calculated through the a thousand Genomes Task. The minor allele at this spot is indicated in parentheses and may be various with the allele represented by this VCV history.

The issue with the classification, supplied by the submitter for this submitted (SCV) report. This column also involves the affected status and allele origin of individuals observed using this variant.

The mixture germline classification for this variant, generally for your monogenic or Mendelian ailment as from the ACMG/AMP suggestions, or for reaction to some drug. This benefit is calculated by NCBI thr777 dependant on facts from submitters. Read our policies for calculating the aggregate classification.

There isn't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, be sure to think about submitting that info to ClinVar.

The submitting Group for this submitted (SCV) report. This column also contains the SCV accession and Edition number, the day this SCV very first appeared in ClinVar, as well as date this SCV was very last updated in ClinVar.

This Site is employing a stability service to protect by itself from on the web attacks. The action you just executed triggered the security Resolution. There are many actions that can bring about this block together with distributing a certain phrase or phrase, a SQL command or malformed facts.

Aberrant five' splice web-sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational resources that forecast their utilization.

Stars depict the aggregate review standing, or the extent of evaluation supporting the mixture germline classification for this VCV history.

The location is safe. The https:// assures that you will be connecting into the Formal Web page and that any details you give is encrypted and transmitted securely.

The location is secure. The https:// ensures that you are connecting into the official Web site Which any facts you supply is encrypted and transmitted securely.

Stars signify the critique position, or the level of evaluate supporting the submitted (SCV) document. This price is calculated by NCBI according to knowledge from the submitter.