Pathogenic variant

Pathogenic variant refers to a genetic variant that increases an individual's susceptibility or predisposition to a certain disease or disorder. When such a variant is identified, genetic testing can be used to determine if an individual has this variant in their genome. Pathogenic variants can involve changes to the DNA sequence, the arrangement of the DNA within the genome, or the number of copies of a certain gene.

Overview

A pathogenic variant can occur in any part of the genome, including both the protein-coding DNA and non-coding DNA. It can affect the function of the gene in which it occurs, leading to a disease or disorder. Pathogenic variants can be inherited from a parent or they can occur de novo, meaning they are completely new mutations in an individual.

Types of Pathogenic Variants

There are several types of pathogenic variants, including:

• Single Nucleotide Polymorphisms (SNPs): These are the most common type of genetic variation. Each SNP represents a difference in a single DNA building block, called a nucleotide.

• Insertions and Deletions: These are additions or losses of DNA sequences.

• Copy Number Variations (CNVs): These include large regions of the genome that have been deleted or duplicated.

• Structural Variations: These involve more complex rearrangements of the genome.

Clinical Significance

Pathogenic variants can have a significant impact on health. They can cause Mendelian diseases, which are caused by mutations in a single gene, as well as complex diseases, which are caused by mutations in multiple genes. Pathogenic variants can also increase the risk of developing certain diseases, such as cancer.

See Also

• Genetic variation
• Genetic disorder
• Genetic testing
• Genome
• DNA sequencing

References

Pathogenic variant Resources
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