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The HGVS nomenclature system (www.hgvs.org/mutnomen) for sequence variant descriptions has existed for well over a decade and has achieved a reasonable level of adoption. Certain specialised sub-fields within the human genetics and genomics community still use legacy systems, but increasingly less so, and often only alongside the more widely understood HGVS system. This level of adoption has led to the HGVS nomenclature being referred to as a de facto standard.

Unfortunately, there is no formalized, reliable and scalable process in place for maintaining and updating the nomenclature. Such a process is necessary to handle new sequence variant features that require description, updating existing descriptions to keep pace with evolving practice standards, etc. The result of this situation is a specification that is never completely up to date and, when improvements are made, they are done so based on input from a relatively small number of experts.

To address this, the Human Variome Project, Human Genome Variation Society and HUGO convened a joint Working Group in 2013 to publish an updated nomenclature specification (Joint Standard) through the Human Variome Project Standards Development Process (see http://short.variome.org/PD06-2011) and to develop a sustainable process for maintaining and updating this standard.

Working Group Members

Johan den Dunnen, Chair
Stylianos Antonarakis
Donna Maglott
Jean McGowan-Jordan
Peter Taschner
Raymond Dalgleish
Marc Greenblatt
Anne-Francoise Roux
Reece Hart

Activity

Discussions regarding the advantages and disadvantages of the recommendations made are necessary in order to continuously improve the system.  The Working Group handles all requests to change or extend the current recomendation. All proposals can be sent to This email address is being protected from spambots. You need JavaScript enabled to view it.. SVD-WG also welcomes complicated cases not yet covered, with a suggestion of how to describe these.

The SVD-WG invites investigators to communicate with them regarding thier recommendations. To view proposals currently open for Community Consultation, as well as previously discussed prosals, please visit the HGVS website.

After publication, each proposal will be open for comment for a 2 month period. If you would like to receive notification of all proposals, please register by email to Timothy Smith, (This email address is being protected from spambots. You need JavaScript enabled to view it.) subject: "SVD-WG discussion list".