HGVS Variant Nomenclature Committee (HVNC)#
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.
Mission#
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 |
|---|---|---|
| Gwendolyn Bennett | Quest Diagnostics, United States | 2024 - 2028 |
| 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 |
| Ros Hastings (ISCN representative) | Oxford University, United Kingdom | 2021 - .... |
| Timothy Hefferon | National Center for Biotechnology Information (NCBI), United States | 2024 - 2028 |
| Jeroen Laros | Leiden University Medical Center, Nederland | 2022 - 2025 |
| Hencher Lee | Princess Margaret Hospital, Hong Kong | 2024 - 2028 |
| Matthew Stachowiak | GenomOncology, United States | 2024 - 2028 |
| Rachel Taylor | University of Manchester, United Kingdom | 2022 - 2025 |
| Alex Wagner | Nationwide Childrens Hospital, US | 2022 - 2025 |
past HVNC members#
- 2013 - 2024 : Reece Hart (United States)
- 2018 - 2024 : Peter Freeman (United Kingdom)
- 2021 - 2024 : Terence Murphy (United States)
- 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)