ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence modifications on RNA splicing advise this variant may perhaps make or improve a splice website. In summary, the readily available evidence is currently inadequate to find out the role of the variant in disorder. As a result, it's been labeled as being a Variant of Uncertain Importance.
This benefit is calculated by NCBI depending on info from submitters. Read our principles for calculating the overview standing. The quantity of submissions which contribute to this critique standing is shown in parentheses.
There isn't a practical proof in ClinVar for this variation. In case you have created functional facts for this variation, you should think about publishing that knowledge to ClinVar.
This column consists of more information supporting the classification, together with citations, the comment on classification, and in depth evidence furnished as observations on the variant with the submitter.
The website is protected. The https:// makes certain that you'll be connecting towards the Formal Web-site and that any information and facts you give is encrypted and transmitted securely.
The mixture germline classification for this variant, typically for the monogenic or Mendelian ailment as while in the ACMG/AMP suggestions, or for response into a drug. This worth is calculated by NCBI dependant on information from submitters. Read through our policies for calculating the combination classification.
There are no citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, you should think about distributing that facts to ClinVar.
The amount of variants in ClinVar which might be contained in just this gene, that has a website link to see the list of variants.
This website is using a security service to shield alone from on line assaults. The action you just performed brought on the security Resolution. There are various actions which could bring about this block such thr777 as submitting a particular term or phrase, a SQL command or malformed knowledge.
Aberrant five' splice websites in human ailment genes: mutation sample, nucleotide composition and comparison of computational tools that predict their utilization.
Stars characterize the mixture critique standing, or the level of evaluate supporting the aggregate germline classification for this VCV file.
The quantity of variants in ClinVar for this gene, which include scaled-down variants throughout the gene and larger CNVs that overlap or completely have the gene.
You may electronic mail the website proprietor to let them know you ended up blocked. Please consist of what you had been carrying out when this site came up plus the Cloudflare Ray ID found at The underside of this web site.
Stars represent the evaluation status, or the extent of assessment supporting the submitted (SCV) file. This value is calculated by NCBI dependant on information from the submitter.