ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the outcome of sequence improvements on RNA splicing recommend that this variant may perhaps develop or improve a splice internet site. In summary, the out there proof is currently inadequate to find out the purpose of the variant in sickness. Therefore, it has been categorised for a Variant of Uncertain Significance.
This benefit is calculated by NCBI dependant on information from submitters. Read through our rules for calculating the assessment position. The amount of submissions which contribute to this review position is proven in parentheses.
This day represents the last time this VCV report was updated. The update can be resulting from an update to on the list of involved submitted documents (SCVs), or because of an update that ClinVar made to your variant such as adding HGVS expressions or perhaps a rs amount.
The worldwide insignificant allele frequency calculated through the one thousand Genomes Venture. The insignificant allele at this area is indicated in parentheses and could be distinct through the allele represented by this VCV file.
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The combination germline classification for this variant, generally to get a monogenic or Mendelian condition as during the ACMG/AMP pointers, or for reaction to a drug. This value is calculated by NCBI depending on info from submitters. Study our policies for calculating the combination classification.
Read through our regulations for calculating the overview status. This column also features a connection for the submitter’s assertion conditions if furnished, and the gathering system.
The submitting Firm for this submitted (SCV) document. This column also consists of the SCV accession and Variation number, the day this SCV initial appeared in ClinVar, plus the day this SCV thr777 was previous up to date in ClinVar.
These citations are determined by LitVar utilizing the rs quantity, so they may include citations for more than one variant at this locale. Be sure to evaluation the LitVar benefits very carefully for your variant of fascination. Document very last up to date May perhaps 19, 2024
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The amount of variants in ClinVar for this gene, together with smaller sized variants inside the gene and larger CNVs that overlap or totally consist of the gene.
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