Professional
Technical
IVT
germline variant
A hereditary genetic alteration present in reproductive cells and inherited from parents.
Full Definition
A germline variant represents a genetic alteration present in the DNA of reproductive cells (sperm and eggs) that can be passed from parents to offspring and is found in all cells of the body. In cancer genetics, germline variants may predispose individuals to increased cancer risk and influence treatment selection, particularly for therapies like PARP inhibitors. These variants require genetic counseling and may have implications for family members who could carry the same genetic changes.
Usage
Usage note: Distinguish clearly from somatic variants in all clinical documentation.
In Context
- "The germline variant in BRCA2 influenced both treatment selection and family screening recommendations." — Genetic counseling report
- "Germline variant testing was recommended given the patient's strong family history of breast cancer." — Clinical genetics referral
Also known as
inherited variant
constitutional variant
Contrasted with
somatic variant
acquired mutation
Don't confuse with
somatic variant
de novo variant