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Stimulated by the HGVS, standards have been developed regarding the description of sequence variants, the so called HGVS recommendations for the description of sequence variants (“Mutation nomenclature”). Over time, these recommendations have developed into a standard that is used world-wide, esp. in the field of human genetics. Questions regarding the current recommendations and requests for modifications and extensions directed at the HGVS are currently collected, answered and discussed by Johan den Dunnen, using the HGVS website ( Final decisions on specific topics are made a bit ad-hoc, based on community opinions, gathered through the website and discussed at meetings of the HGVS and HVP. What is highly desired is a committee of experts that meets regularly to discuss the topics raised and together make a more official decision.

Key Documents

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

DateStage Code
2012-11-07 0010
2012-12-14 0020
2012-12-17 0050
2012-12-17 0080
2012-12-17 1050
2012-12-17 1080
2013-01-21 1099
2013-10-25 2010
2013-10-25 2020