Variants of unknown significance
Variants of unknown significance or VUS in short is a term referred in genetics to indicate the effects of variants in causing a disease. Whether or not the variants affect the function of a gene or a protein can be based on those that (a) affects function or change, (b) probably affecting function, (c) unknown, (d) probably with no functional effect and (e) no functional effect at all. This term is a part of recommendation from Human Genome Variation Society (HGVS).
References
- den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.Hum Mutat. 2000;15(1):7-12.
External links
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