ArticleHuman mutation2024
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.
Article in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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10 authors.
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Abstract
Routine gene panel analysis identifies pathogenic variants in clinically relevant genes. However, variants of unknown significance (VUSs) are commonly observed, many of which potentially have an impact on mRNA transcription and splicing. Several software programs attempt to predict the impact of variants on splicing and thus make it possible to select the variants for which it is important to study the effect on the transcripts. Transcript analysis is also necessary to show the tandem character of large duplications, and it can be useful for the search for deep intronic variants that are difficult to identify in a DNA panel. We analyzed 53 variants of unknown significance by targeted sequencing of 48 genes using RNA extracted from patient blood samples. RT-PCR and Sanger sequencing of patient mRNA or minigene monoallelic analysis was also carried out when necessary. For the 53 VUSs, 21 could be classified as likely neutral and 10 as pathogenic or likely pathogenic. Data are comprehensively presented for four variants:
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