ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence variations on RNA splicing advise this variant might generate or improve a splice web-site. In summary, the accessible evidence is now inadequate to find out the purpose of the variant in sickness. Consequently, it's been categorised for a Variant of Uncertain Importance.

This benefit is calculated by NCBI according to facts from submitters. Read our guidelines for calculating the review position. The volume of submissions which lead to this review standing is proven in parentheses.

There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful information for this variation, you should take into consideration distributing that details to ClinVar.

This column features additional information supporting the classification, which includes citations, the comment on classification, and comprehensive proof presented as observations from the variant via the submitter.

The site is safe. The https:// makes sure that you're connecting for the Formal website and that any facts you offer is encrypted and transmitted securely.

The aggregate germline classification for this variant, normally for your monogenic or Mendelian ailment as within the ACMG/AMP suggestions, or for response into a drug. This worth is calculated by NCBI based upon details from submitters. Read our rules for calculating the aggregate classification.

There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about publishing that information and facts to ClinVar.

The amount of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.

These citations are recognized by LitVar utilizing the rs number, so they may contain citations for more than one variant at this location. You should review the LitVar benefits carefully on your variant of desire. Document previous current May 19, 2024 

Aberrant 5' splice sites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.

The location is secure. The https:// makes sure you are connecting towards the Formal Web site Which any info you deliver is encrypted and transmitted securely.

The amount of variants in ClinVar for this gene, such as scaled-down variants within the gene and larger CNVs that overlap or fully incorporate the gene.

You are able to e-mail the positioning proprietor to let them know you have been blocked. You should involve what you were performing when this web page came up and also the Cloudflare Ray thr777 ID discovered at the bottom of the site.

Stars stand for the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details with the submitter.