Please support our efforts: NEW: bi-monthly online HGVS nomenclature sessions. The Q&A of Tuesday June 22 is now available through the Socrative classroom: HGVSonline. Interested in the next session?, follow HUGO's Facebook page.
This site covers HGVS-nomenclature, the recommendations for the description of sequence variants. It is used to report and exchange information of variants found in DNA, RNA and protein sequences and serves as an international standard. When using the recommendations please cite: Den Dunnen et al. 2016, Hum.Mutat. 37:564-569. HGVS-nomenclature is authorised by the Human Genome Variation Society (HGVS), the Human Variome Project (HVP) and the Human Genome Organization (HUGO).
Proposal SVD-WG010 (var distance) is now open for comments. An overview of recent additions, especially those that led to a change of the HGVS version number, can be found on the Versioning page. The HGVS nomenclature facebook page regularly posts topics of interest, including Q&A’s and a nomenclature agenda.
Discussions regarding HGVS nomenclature are necessary in order to further improve them. What is listed on these pages represents the current consensus of the recommendations. We invite everybody to send us question, comments or examples of cases that are not yet covered, with a suggestion of how to describe these ( E-mail: VarNomen @ HGVS.org). For specific questions, do not forget to mention the reference sequence used!