Noun. /SING-gul NOO-klee-oh-tide VAYR-ee-unt/
by Julia Riley
What does it mean?
A single-nucleotide variant (SNV) is a type of change in DNA where only one nucleotide (adenine, cytosine, thymine, guanine) is modified. Depending on location and change, these SNVs can be rare or common and (independently) completely benign or implicated in disease risk.
How do I use it in a sentence?
“By comparing the patient’s DNA sequence with that of healthy individuals, the researchers found that a single-nucleotide variant (SNV) was responsible for the patient’s rare disease.”
Another option: “The study found that cells that had an SNV in the xyz gene were able to survive better in higher pH than the wild type cells (with a normally functioning xyz gene).”
Figure: At the top left is a reference sequence. Below is an example of a sequence with an SNV, showing one base differing from the reference genome. This SNV can result in several outcomes: no effect (the same amino acid is coded for), a missense mutation (a different amino acid is coded for), an early stop (the protein that this sequence is coding for ends early, likely disrupting its function), or modified gene expression/regulation (altered transcription factor binding, splicing, etc.). Image is the author’s own work.
Related terms
Mutation, single nucleotide polymorphism, substitution, transition, transversion, synonymous, benign, pathogenic, variant of uncertain significance
Fields of study in which this word is commonly used
- Genomics
- Medicine
- Agriculture
- Forensic Sciences
