Intermediate
Technical
In the Industry Vocabulary Test
germline variant
A genetic variation present in inherited DNA from parents, found in all cells of the body.
Full Definition
A germline variant is a genetic alteration that is inherited from parents and present in the DNA of all cells in an individual's body, including both normal and cancer cells. Unlike somatic mutations that occur only in tumor tissue, germline variants are detected in normal tissue and can predispose individuals to cancer development. Identification of pathogenic germline variants has important implications for cancer risk assessment, genetic counseling, and family screening protocols.
Usage
Usage note: Distinction from somatic variants is crucial for appropriate clinical interpretation and counseling.
In Context
- "Genetic testing identified a pathogenic germline variant in the PALB2 gene, indicating hereditary breast cancer syndrome." — Genetic counseling report
- "The molecular lab reported several germline variants of uncertain significance requiring further evaluation." — Clinical documentation
Also known as
inherited variant
constitutional variant
hereditary mutation
Contrasted with
somatic variant
acquired mutation
Don't confuse with
somatic variant
de novo mutation