ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence variations on RNA splicing recommend that this variant may possibly create or strengthen a splice internet site. In summary, the accessible evidence is at present insufficient to determine the function of this variant in ailment. As a result, it has been labeled being a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon data from submitters. Examine our guidelines for calculating the evaluation status. The number of submissions which contribute to this overview status is proven in parentheses.
There isn't any useful proof in ClinVar for this variation. When you have generated useful information for this variation, remember to think about submitting that info to ClinVar.
The global small allele frequency calculated through the one thousand Genomes Venture. The insignificant allele at this location is indicated in parentheses and may be different from your allele represented by this VCV document.
The website is safe. The https:// makes sure you are connecting towards the Formal website Which any details you supply is encrypted and transmitted securely.
The positioning is secure. The https:// ensures you are connecting into the official Web page Which any info you deliver is encrypted and transmitted securely.
There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please think about submitting that data to ClinVar.
The distributing Firm for this submitted (SCV) record. This column also incorporates the SCV accession and version range, the day this SCV initially appeared in ClinVar, along with the day this SCV was past updated in ClinVar.
These citations are determined by LitVar utilizing the rs range, so they may involve citations for multiple variant at this site. You should evaluate the LitVar success carefully to your variant of interest. Record last up to date Might 19, 2024
Aberrant five' splice internet sites in human sickness genes: mutation sample, nucleotide composition and comparison of computational tools that forecast their utilization.
Stars stand for the mixture evaluate position, or the level of assessment supporting the mixture germline classification for this VCV record.
The positioning is secure. The https:// ensures that you're connecting for the official Internet site Which any facts you present is encrypted and transmitted securely.
The internet site is safe. The https:// assures you are connecting into the official website Which any information you give is encrypted and transmitted securely.
Stars characterize the thr777 critique position, or the level of overview supporting the submitted (SCV) file. This benefit is calculated by NCBI determined by information with the submitter.