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Variant of uncertain significance, the Glossary

Index Variant of uncertain significance

A variant of uncertain (or unknown) significance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known.[1]

Table of Contents

  1. 36 relations: American College of Medical Genetics and Genomics, ATM serine/threonine kinase, BRCA1, BRCA2, Breast cancer, Cadherin-1, CHEK2, College of American Pathologists, Craig Venter, Diabetes, Enhancer (genetics), Exome, FTO gene, Gene expression, Genetic disorder, Genetic testing, Genome, Genome-wide association study, Human Genome Project, In silico, Information theory, Intergenic region, Intron, IRX3, Massive parallel sequencing, Mutation, Non-coding DNA, Non-coding RNA, Obesity, P53, PALB2, Phenotype, Regulatory sequence, Single-nucleotide polymorphism, Stem cell factor, Whole genome sequencing.

  2. Cancer screening
  3. Human genome projects
  4. Mutated genes

American College of Medical Genetics and Genomics

The American College of Medical Genetics and Genomics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics.

See Variant of uncertain significance and American College of Medical Genetics and Genomics

ATM serine/threonine kinase

ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks (canonical pathway), oxidative stress, topoisomerase cleavage complexes, splicing intermediates, R-loops and in some cases by single-strand DNA breaks.

See Variant of uncertain significance and ATM serine/threonine kinase

BRCA1

Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 gene.

See Variant of uncertain significance and BRCA1

BRCA2

BRCA2 and BRCA2 are human genes and their protein products, respectively.

See Variant of uncertain significance and BRCA2

Breast cancer

Breast cancer is a cancer that develops from breast tissue.

See Variant of uncertain significance and Breast cancer

Cadherin-1

Cadherin-1 or Epithelial cadherin (E-cadherin), (not to be confused with the APC/C activator protein CDH1) is a protein that in humans is encoded by the CDH1 gene.

See Variant of uncertain significance and Cadherin-1

CHEK2

CHEK2 (Checkpoint kinase 2) is a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase.

See Variant of uncertain significance and CHEK2

College of American Pathologists

The College of American Pathologists (CAP) is a member-based physician organization founded in 1946 comprising approximately 18,000 board-certified pathologists.

See Variant of uncertain significance and College of American Pathologists

Craig Venter

John Craig Venter (born October 14, 1946) is an American biotechnologist and businessman.

See Variant of uncertain significance and Craig Venter

Diabetes

Diabetes mellitus, often known simply as diabetes, is a group of common endocrine diseases characterized by sustained high blood sugar levels.

See Variant of uncertain significance and Diabetes

Enhancer (genetics)

In genetics, an enhancer is a short (50–1500 bp) region of DNA that can be bound by proteins (activators) to increase the likelihood that transcription of a particular gene will occur.

See Variant of uncertain significance and Enhancer (genetics)

Exome

The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing.

See Variant of uncertain significance and Exome

FTO gene

Fat mass and obesity-associated protein also known as alpha-ketoglutarate-dependent dioxygenase FTO is an enzyme that in humans is encoded by the FTO gene located on chromosome 16.

See Variant of uncertain significance and FTO gene

Gene expression

Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, proteins or non-coding RNA, and ultimately affect a phenotype.

See Variant of uncertain significance and Gene expression

Genetic disorder

A genetic disorder is a health problem caused by one or more abnormalities in the genome. Variant of uncertain significance and genetic disorder are genetic diseases and disorders.

See Variant of uncertain significance and Genetic disorder

Genetic testing

Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure.

See Variant of uncertain significance and Genetic testing

Genome

In the fields of molecular biology and genetics, a genome is all the genetic information of an organism.

See Variant of uncertain significance and Genome

Genome-wide association study

In genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. Variant of uncertain significance and genome-wide association study are human genome projects.

See Variant of uncertain significance and Genome-wide association study

Human Genome Project

The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. Variant of uncertain significance and human Genome Project are human genome projects.

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In silico

In biology and other experimental sciences, an in silico experiment is one performed on a computer or via computer simulation software.

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Information theory

Information theory is the mathematical study of the quantification, storage, and communication of information.

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Intergenic region

An intergenic region is a stretch of DNA sequences located between genes.

See Variant of uncertain significance and Intergenic region

Intron

An intron is any nucleotide sequence within a gene that is not expressed or operative in the final RNA product.

See Variant of uncertain significance and Intron

IRX3

Iroquois-class homeodomain protein IRX-3, also known as Iroquois homeobox protein 3, is a protein that in humans is encoded by the IRX3 gene.

See Variant of uncertain significance and IRX3

Massive parallel sequencing

Massive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation sequencing.

See Variant of uncertain significance and Massive parallel sequencing

Mutation

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA.

See Variant of uncertain significance and Mutation

Non-coding DNA

Non-coding DNA (ncDNA) sequences are components of an organism's DNA that do not encode protein sequences.

See Variant of uncertain significance and Non-coding DNA

Non-coding RNA

A non-coding RNA (ncRNA) is a functional RNA molecule that is not translated into a protein.

See Variant of uncertain significance and Non-coding RNA

Obesity

Obesity is a medical condition, sometimes considered a disease, in which excess body fat has accumulated to such an extent that it can potentially have negative effects on health.

See Variant of uncertain significance and Obesity

P53

p53, also known as Tumor protein P53, cellular tumor antigen p53 (UniProt name), or transformation-related protein 53 (TRP53) is a regulatory protein that is often mutated in human cancers.

See Variant of uncertain significance and P53

PALB2

Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by the PALB2 gene.

See Variant of uncertain significance and PALB2

Phenotype

In genetics, the phenotype is the set of observable characteristics or traits of an organism.

See Variant of uncertain significance and Phenotype

Regulatory sequence

A regulatory sequence is a segment of a nucleic acid molecule which is capable of increasing or decreasing the expression of specific genes within an organism.

See Variant of uncertain significance and Regulatory sequence

Single-nucleotide polymorphism

In genetics and bioinformatics, a single-nucleotide polymorphism (SNP; plural SNPs) is a germline substitution of a single nucleotide at a specific position in the genome.

See Variant of uncertain significance and Single-nucleotide polymorphism

Stem cell factor

Stem cell factor (also known as SCF, KIT-ligand, KL, or steel factor) is a cytokine that binds to the c-KIT receptor (CD117).

See Variant of uncertain significance and Stem cell factor

Whole genome sequencing

Whole genome sequencing (WGS) is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time.

See Variant of uncertain significance and Whole genome sequencing

See also

Cancer screening

Human genome projects

Mutated genes

References

[1] https://en.wikipedia.org/wiki/Variant_of_uncertain_significance

Also known as Gene of uncertain significance, Pathogenic variant, Variants of unknown significance.