ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the impact of sequence variations on RNA splicing counsel that this variant may perhaps create or strengthen a splice website. In summary, the offered evidence is at present insufficient to determine the part of this variant in illness. Hence, it's been categorized like a Variant of Unsure Importance.
This worth is calculated by NCBI determined by knowledge from submitters. Read through our principles for calculating the assessment standing. The number of submissions which lead to this critique status is revealed in parentheses.
There's no useful proof in ClinVar for this variation. If you have created useful data for this variation, make sure you look at distributing that info to ClinVar.
The global minor allele frequency calculated from the a thousand Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be unique within the allele represented by this VCV file.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the influenced status and allele origin of individuals noticed with this variant.
The website is safe. The https:// makes sure that you're connecting to your Formal website and that any details you give is encrypted and transmitted securely.
Go through our principles for calculating the evaluation status. This column also features a url for the submitter’s assertion criteria if presented, and the collection technique.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Variation amount, the date this SCV 1st appeared in ClinVar, and the date this SCV was last up to date in ClinVar.
This Web site is utilizing a protection assistance to shield alone from on-line attacks. The action you just performed induced the security Remedy. There are several steps that could set off this block which includes submitting a certain term or phrase, a SQL command or malformed data.
Aberrant five' splice sites in human disease genes: mutation sample, nucleotide structure and comparison of computational applications that forecast their utilization.
Stars stand for the mixture assessment position, or the level of evaluation supporting the combination germline classification for this VCV file.
The volume 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.
You can email the website proprietor to thr777 let them know you had been blocked. Remember to include things like Anything you were being doing when this page arrived up and the Cloudflare Ray ID found at The underside of this web site.
Stars represent the review position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on data within the submitter.