Definition
A variant present at the point of an individual’s conception. The variant is present in every cell in their body and can be passed on to the next generation.
Use in clinical context
Germline variants are responsible for inherited traits, including predispositions to particular diseases. When someone has a suspected genetic condition, identifying the germline variant can be important, not only for the individual, but also for their family members. Identifying the variant may affect ongoing treatment or management of the individual, but it can also be important for their family members as they too may have inherited the same variant.
