Definition
A variant that has arisen in an individual for the first time and is not inherited from a parent.
Use in clinical context
There are a large number of variants found throughout the genome of every individual. Variants can be inherited from parents or arise for the first time in the individual. New variants are termed ‘de novo variants’ and can be caused by chance, impaired DNA repair, or increased mutation of the genome due to mutagens such as radiation and particular chemicals. As with all variants, de novo variants can have functional consequences.
