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.

novel variant
(NAH-vel VAYR-ee-unt)
A newly discovered, distinct genetic alteration; NOT the same as new or de novo variant (or mutation). Also called novel mutation.