ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the effect of sequence variations on RNA splicing advise that this variant could produce or fortify a splice web-site. In summary, the out there proof is currently inadequate to determine the job of this variant in disease. Thus, it has been categorised like a Variant of Uncertain Importance. (fewer)
The mixture germline classification for this variant, generally for your monogenic or Mendelian ailment as in the ACMG/AMP recommendations, or for response to your drug. This benefit is calculated by NCBI based upon data from submitters. Browse our procedures for calculating the combination classification.
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The affliction with the classification, provided by the submitter for this submitted (SCV) record. This column also contains the impacted standing and allele origin of individuals observed with this particular variant.
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Stars depict the mixture evaluate position, or the level of evaluation supporting the aggregate germline classification for this VCV record.
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