ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the influence of sequence modifications on RNA splicing propose that this variant could generate or improve a splice web-site. In summary, the available proof is now inadequate to find out the position of this variant in illness. Consequently, it's been labeled being a Variant of Uncertain Importance.

This value is calculated by NCBI determined by info from submitters. Read through our rules for calculating the evaluate position. The quantity of submissions which contribute to this evaluate status is revealed in parentheses.

This day represents the last time this VCV document was up-to-date. The update may be resulting from an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar made towards the variant for example incorporating HGVS expressions or maybe a rs selection.

The worldwide slight allele frequency calculated with the 1000 Genomes Venture. The minor allele at this locale is indicated in parentheses and should be distinct from your allele represented by this VCV record.

The affliction to the classification, furnished by the submitter for this submitted (SCV) document. This column also includes the impacted position and allele origin of individuals observed using this type of variant.

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

There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration publishing that details to ClinVar.

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

These citations are discovered by LitVar using the rs range, so They could incorporate citations for multiple variant at this place. Make sure you evaluate the LitVar outcomes thoroughly for the variant of curiosity. Report last updated May possibly 19, 2024 

Aberrant five' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational instruments that predict their utilization.

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The quantity of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or fully consist of the gene.

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