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HGVS Variant Nomenclature Committee (HVNC)#

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If you are interested in joining the HVNC and contributing to the maintenance of the HGVS Nomenclature, please see the Call for Members. Applications are due April 1, 2024.

The HGVS Variant Nomenclature Committee (HVNC) is authorised by the Human Genome Organisation (HUGO), a working group of the HUGO Nomenclature Standards Committee, with administrative support of the HUGO office. Activities of the HVNC follow the committee's Terms of Reference with new members being appointed every two years for a four-year term. HVNC members should together represent all interested communities, including gene/disease specific database curators, central repositories, clinical geneticists, commercial diagnostic laboratories, bioinformaticians, scientific journals, etc. The HVNC is the successor of the HGVS nomenclature Sequence Variant Description Working Group (SVD-WG), initiated by the Human Variome Project.


The mission of the HVNC is to define the standard for the unambiguous description of all sequence variants on the DNA, RNA, and protein level: the HGVS nomenclature.

HVNC members#

The HVNC started in 2013, initiated by Global Variome (GV) / the Human Variome Project (HVP).

Name Institution Term
Johan den Dunnen (chair) Leiden University Medical Center, Nederland 2013 - ....
Marina DiStefano Broad Clinical Labs, United States 2022 - 2025
Ivo Fokkema Leiden University Medical Center, Nederland 2023 - 2026
Peter Freeman University of Manchester, United Kingdom 2018 - ....
Reece Hart MyOme, Inc., United States 2013 - ....
Ros Hastings (ISCN representative) Oxford University, United Kingdom 2021 - ....
Jeroen Laros Leiden University Medical Center, Nederland 2022 - 2025
Terence Murphy National Center for Biotechnology Information (NCBI), United States 2021 - 2025
Rachel Taylor University of Manchester, United Kingdom 2022 - 2025
Alex Wagner Nationwide Childrens Hospital, US 2022 - 2025

past HVNC members#

  • 2013 - 2022 : Raymond Dalgleish (United Kingdom)
  • 2013 - 2022 : Peter Taschner (Nederland)
  • 2014 - 2021 : Anne-Francoise Roux (France)
  • 2020 - 2021 : Oleg Agofonov (Norway)
  • 2013 - 2021 :
    • Donna Maglott (United States)
    • Jean McGowan-Jordan (United States) (ISCN representative)
    • Stylianos Antonarakis (Switzerland) (HUGO representative)
    • Marc Greenblatt (United States) (HGVS representative)
    • Amy McAllister (United Kingdom) (HVP / GV representative)
  • 2013 - 2018 : Tim Smith (Australia) (HVP / GV representative)
  • 2013 - 2014 : Els Dequeker (Belgium)