Evidence map›Paper›PMID 37445732›Full record

ArticleInternational journal of molecular sciences2023

Synonymous Variants of Uncertain Silence.

Christopher J Giacoletto, Jerome I Rotter, Wayne W Grody, Martin R Schiller

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.8field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 1 country.

Christopher J GiacolettoNevada Institute of Personalized Medicine, University of Nevada Las Vegas, 4505 S. Maryland Parkway, Las Vegas, NV 89154, USA.
Jerome I RotterHeligenics Inc., 10530 Discovery Drive, Las Vegas, NV 89135, USA.ORCID 0000-0001-7191-1723
Wayne W GrodyDepartment of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, 10833 Le Conte Ave., 705, Los Angeles, CA 90095, USA.
Martin R SchillerNevada Institute of Personalized Medicine, University of Nevada Las Vegas, 4505 S. Maryland Parkway, Las Vegas, NV 89154, USA.ORCID 0000-0003-1671-6823
University of Nevada, Las Vegas · USUCLA Medical Center · USUniversity of California, Los Angeles · US

Funding

The Genome Analysis and Sequencing Pipeline (GASP)P20GM121325 · NIGMS · UNIVERSITY OF NEVADA LAS VEGAS · PI CHEN, JINGCHUN · 2018 to 2022
$11.5M
High-throughput functional analysis and clinical relevance of all possible variants of a geneR43HG012537 · NHGRI · HELIGENICS INC · PI SCHILLER, MARTIN R. · 2023 to 2023
$399k
NHGRI NIH HHS R43 HG012537NIH HHS P20GM121325NIH HHS R43HG012537
6 · The paper itself

Abstract

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. Analysis of the activity of 70 synonymous variants in the HIV Tat transcription factor revealed that 50% of the variants exhibited significant deviations from wild-type activity. Our analysis supports previous work and raises important questions about the broader impact of non-silent synonymous variants in human genes. Considering the potential functional implications, the authors propose classifying such variants as "synonymous variants of uncertain silence" (sVUS), highlighting the need for cautious interpretation and further investigations in clinical and genetic testing settings.

Indexed as

Silent MutationTranscription FactorsGene Expression RegulationHumansTranscription Factorssequencesilent variantsynonymous variantvariant interpretation

Identifiers

PMID37445732
PMCPMC10341574
OpenAlexW4382068511

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.