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HGVS nomenclature (http://www.hgvs.org/varnomen), the HGVS recommendations for the description of variants in DNA, RNA and protein sequences, were first published in 2000. Although certain specialised sub-fields within the human genetics and genomics community still use legacy systems, they only do so alongside the more widely understood HGVS system. Currently, HGVS nomenclature is the de facto world-standard, supported by HGVS, HVP, HUGO, IRDiRC and GA4GH and its use demanded in clinical diagnostic reporting.

Since there was no formalized, reliable and scalable process in place for maintaining and updating the nomenclature, HVP took the initiative to establish the Sequence Variant Nomenclature Working Group (SVD-WG). This working group was convened by the Human Variome Project, Human Genome Variation Society and HUGO as a joint working group 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 the HGVS nomenclature.

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 VarNomen@Variome.org. 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 Amy McAllister, (amy@variome.orgsubject: "SVD-WG discussion list".