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
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.