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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 and clinical genetics. The latest version of the recommendations can be found at the official HGVS nomenclature web site (https://www.hgvs.org/varnomen).

Questions regarding the current recommendations and requests for modifications and extensions should be directed at the "Sequence Variant Description working group (SVD-WG)": mail to "Varnomen @ HGVD.org" (remove spaces). Decisions on specific topics are made by the SVD-WG, which includes a "Community Consultation" step (http://varnomen.hgvs.org/bg-material/consultation/) to gather community opinions. Mails will be answered by the current chair of the SVD-WG, Johan den Dunnen.

Please note the HGVS nomenclature work is performed without any financial support, so be patient when awaiting a reply. To support the HGVS nomenclature work. DONATE at:

            https://www.paypal.com/donate/?hosted_button_id=DHJVLF3Z2TA2U

 

Working Group Members

  • Johan den Dunnen, Chair
  • Stylianos Antonarakis
  • Ros Hastings
  • Marc Greenblatt
  • Peter Taschner
  • Raymond Dalgleish
  • Terence Murphy
  • Anne-Francoise Roux
  • Reece Hart
  • Pete Causey-Freeman
  • Oleg Agafonov