Synonymous Variants of Uncertain Silence

Synonymous Variants of Uncertain Silence

Synonymous variants, traditionally regarded as silent mutations due to their lack of impact on protein sequence, structure and function, have been the subject of increasing scrutiny. This commentary explores the emerging evidence challenging the notion of synonymous variants as functionally inert. A...

Full description

Bibliographic Details
Main Authors:	Christopher J. Giacoletto, Jerome I. Rotter, Wayne W. Grody, Martin R. Schiller
Format:	Article
Language:	English
Published:	MDPI AG 2023-06-01
Series:	International Journal of Molecular Sciences
Subjects:	synonymous variant silent variant sequence variant interpretation
Online Access:	https://www.mdpi.com/1422-0067/24/13/10556

Similar Items

Quantifying negative selection on synonymous variants
by: Mikhail Gudkov, et al.
Published: (2024-04-01)

Inferring Potential Cancer Driving Synonymous Variants
by: Zishuo Zeng, et al.
Published: (2022-04-01)

Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant
by: Jun Li, et al.
Published: (2022-01-01)

Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives
by: Zishuo Zeng, et al.
Published: (2019-10-01)

Broken silence: 22,841 predicted deleterious synonymous variants identified in the human exome through computational analysis
by: Ana Carolina Mello, et al.
Published: (2024-01-01)

A synonymous variant in GCK gene as a cause of gestational diabetes mellitus
by: Natalia A. Zubkova, et al.
Published: (2019-06-01)

An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants
by: Satishkumar Ranganathan Ganakammal, et al.
Published: (2020-09-01)

Variant effect predictions capture some aspects of deep mutational scanning experiments
by: Jonas Reeb, et al.
Published: (2020-03-01)

AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting
by: Christian Wünsch, et al.
Published: (2020-02-01)

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families
by: Qiang Li, et al.
Published: (2021-06-01)

Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)
by: Natalia A. Zubkova, et al.
Published: (2019-10-01)

Computational identification of deleterious synonymous variants in human genomes using a feature-based approach
by: Fang Shi, et al.
Published: (2019-01-01)

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report
by: Arthur Jacob, et al.
Published: (2020-09-01)

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant
by: Yeqing Yuan, et al.
Published: (2023-01-01)

Next-Generation Sequencing in Order to Better Characterize a BRCA Variant of Uncertain Significance
by: Steven Sorscher, et al.
Published: (2017-07-01)

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory
by: Richard C. Caswell, et al.
Published: (2022-07-01)

DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals
by: Karina Banasik, et al.
Published: (2023-05-01)

A synonymous KCNJ11 variant leading to MODY13: A case report and literature review
by: Congli Chen, et al.
Published: (2024-03-01)

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays
by: Jane H. Frederiksen, et al.
Published: (2021-08-01)

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles
by: Elisa Molinari, et al.
Published: (2020-10-01)

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance
by: Svetlana I. Tarnovskaya, et al.
Published: (2021-08-01)

Somatic cancer variant curation and harmonization through consensus minimum variant level data
by: Deborah I. Ritter, et al.
Published: (2016-11-01)

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay
by: Tomoko Horinouchi, et al.
Published: (2020-08-01)

Innovative strategies for annotating the “relationSNP” between variants and molecular phenotypes
by: Jason E. Miller, et al.
Published: (2019-05-01)

Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study
by: Bryan J. Gall, et al.
Published: (2022-12-01)

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome
by: Meizhen Shi, et al.
Published: (2022-11-01)

Identification of challenges and a framework for implementation of the AMP/ASCO/CAP classification guidelines for reporting somatic variants
by: Bijal A. Parikh, et al.
Published: (2020-08-01)

Phyloepidemiology and adaptive evolution of SARS-CoV2 during the first and second wave of COVID-19 in India
by: Anuj Tewari, et al.
Published: (2023-05-01)

Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data
by: Zilin Ren, et al.
Published: (2023-02-01)

A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report
by: Guorui Hu, et al.
Published: (2020-03-01)

Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases
by: Tatyana E. Lazareva, et al.
Published: (2023-11-01)

In Silico Analysis of Novel Titin Non-Synonymous Missense Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy
by: Miruna Mihaela MICHEU, et al.
Published: (2021-09-01)

The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
by: Nicole Ducich, et al.
Published: (2020-06-01)

Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens
by: Kristjan Eerik Kaseniit, et al.
Published: (2018-10-01)

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
by: Afrooz Sepahvand, et al.
Published: (2020-10-01)

Assessing the impact of a rare synonymous variant in the <i>KNG1</i> gene on the development of hereditary angioedema
by: N. A. Pechnikova, et al.
Published: (2024-01-01)

A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure
by: Weifeng Zhang, et al.
Published: (2021-10-01)

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
by: Sarah E. Brnich, et al.
Published: (2019-12-01)

Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance
by: Christopher E. Hopkins, et al.
Published: (2023-01-01)

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
by: Julian Schröter, et al.
Published: (2023-01-01)