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HGVS Variant Nomenclature Committee (HVNC)

The HGVS Variant Nomenclature Committee (HVNC) is authorised by the Human Genome Organisation (HUGO){:target="_blank"}, a working group of the HUGO Nomenclature Standards Committee{:target="_blank"}, 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{:target="_blank"}.

Task

The task of the HVNC is to define the standard for the unambiguous description of all sequence variants at the DNA, RNA and protein level, the so called HGVS nomenclature standard.

Call for members

A new call for HVNC members will open early 2024. The current committee lacks members representing Asia, Africa and South-America. Interested in the HVNC work, willing to spend some spare time and join the committee? Please consider to apply.

HVNC members

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

  • current members

{:.table .table-bordered}

Name Term
chair: Johan den Dunnen (Nederland) 2013 - ....
Ros Hastings 1 (United Kingdom) 2021 - ....
Reece Hart (United States) 2014 - ....
Peter Causey-Freeman (United Kingdom) 2018 - ....
Terence Murphy (United States) 2021 - 2025
Marina DiStefano (United States) 2022 - 2025
Rachel Taylor (United Kingdom) 2022 - 2025
Jeroen Laros (Nederland) 2022 - 2025
Alex Wagner (United States) 2022 - 2025
Ivo Fokkema (Netherlands ) 2023 - 2026

1 ISCN representative

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) : ISCN representative - Jean McGowan-Jordan (United States) : HUGO representative - Stylianos Antonarakis (Switzerland) : HGVS representative - Marc Greenblatt (United States) : HVP / GV representative - Amy McAllister (United Kingdom)

  • 2013 - 2018 : HVP / GV representative - Tim Smith (Australia)

  • 2013 - 2014 : Els Dequeker (Belgium)