ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the effect of sequence variations on RNA splicing recommend this variant may generate or bolster a splice site. In summary, the out there proof is now inadequate to find out the job of the variant in illness. Therefore, it's been labeled to be a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon knowledge from submitters. Go through our guidelines for calculating the evaluation position. The amount of submissions which add to this overview status is demonstrated in parentheses.
There is not any purposeful proof in ClinVar for this variation. Should you have produced practical knowledge for this variation, please contemplate submitting that data to ClinVar.
This column contains more information supporting the classification, together with citations, the comment on classification, and detailed proof offered as observations from the variant via the submitter.
The issue for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed with this particular variant.
The combination germline classification for this variant, normally for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response into a drug. This worth is calculated by NCBI based upon facts from submitters. Browse our principles for calculating the aggregate classification.
Browse our procedures for calculating the assessment status. This column also includes a hyperlink into the submitter’s assertion criteria if delivered, and the collection approach.
The quantity of variants in ClinVar that are contained within just this gene, with a connection to see the listing of variants.
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The number of variants in ClinVar for this gene, which include more compact variants in the gene and bigger CNVs that overlap or fully consist of the gene.
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