NCI Dictionary of Genetics Terms
The NCI Dictionary of Genetics Terms contains technical definitions for more than 200 terms related to genetics. These definitions were developed by the PDQ® Cancer Genetics Editorial Board to support the evidence-based, peer-reviewed PDQ cancer genetics information summaries.
- pathogenic variant
- listen (PA-thoh-JEH-nik VAYR-ee-unt)
- A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, development of symptoms is more likely, but not certain. Also called deleterious mutation, disease-causing mutation, predisposing mutation, and susceptibility gene.