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RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance ( c.314+3A>T) in Splicing Site Consensus Sequences.

作者信息

Gu Hyunjung, Hong Jinyoung, Lee Woochang, Kim Sung-Bae, Chun Sail, Min Won-Ki

机构信息

Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Department of Oncology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2022 May 1;42(3):376-379. doi: 10.3343/alm.2022.42.3.376.

DOI:10.3343/alm.2022.42.3.376
PMID:34907111
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8677484/
Abstract
摘要

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RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance ( c.314+3A>T) in Splicing Site Consensus Sequences.用于阐明剪接位点共有序列中意义不确定的内含子变异（c.314+3A>T）的RNA测序
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本文引用的文献

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Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.疾病基因中剪接变异的谱与 RNA 分析减少临床解读不确定性的能力。
Am J Hum Genet. 2021 Apr 1;108(4):696-708. doi: 10.1016/j.ajhg.2021.03.006. Epub 2021 Mar 19.
2
Roles and mechanisms of alternative splicing in cancer - implications for care.剪接在癌症中的作用和机制——对治疗的影响。
Nat Rev Clin Oncol. 2020 Aug;17(8):457-474. doi: 10.1038/s41571-020-0350-x. Epub 2020 Apr 17.
3
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
基于逆转录聚合酶链反应的桑格测序证实新型内含子变异（c.1408+4A>G）的外显子跳跃效应
Ann Lab Med. 2024 Mar 1;44(2):188-191. doi: 10.3343/alm.2023.0163. Epub 2023 Oct 16.
4
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.重新评估使用 ClinGen 指南的不确定意义的纤维连接蛋白 1 基因变异。
Ann Lab Med. 2024 May 1;44(3):271-278. doi: 10.3343/alm.2023.0152. Epub 2023 Oct 16.
血液 RNA 分析可以提高临床诊断率，并解决意义不确定的变异。
Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3.
4
Characterization of splice-altering mutations in inherited predisposition to cancer.遗传性癌症易感性中剪接改变突变的特征分析
Proc Natl Acad Sci U S A. 2019 Dec 26;116(52):26798-26807. doi: 10.1073/pnas.1915608116. Epub 2019 Dec 16.
5
Pathogenicity and selective constraint on variation near splice sites.剪接位点附近变异的致病性和选择约束。
Genome Res. 2019 Feb;29(2):159-170. doi: 10.1101/gr.238444.118. Epub 2018 Dec 26.
6
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?用于预测乳腺癌/卵巢癌基因剪接缺陷的计算工具：它们在预测RNA改变方面的效率如何？
Front Genet. 2018 Sep 5;9:366. doi: 10.3389/fgene.2018.00366. eCollection 2018.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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