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The HGVS Nomenclature is an internationally-recognized standard for the description of DNA, RNA, and protein sequence variants. It is used to convey variants in clinical reports and to share variants in publications and databases.
The HGVS Nomenclature is administered by the HGVS Variant Nomenclature Committee (HVNC) under the auspices of the Human Genome Organization (HUGO).
Sign up for Announcements#
Join the HGVS Nomenclature Announcements group and mailing list to receive official administrative announcements from the HVNC such as new releases and membership opportunities. This is a very low-volume list.
Join the HGVS Nomenclature group and mailing list. This is the preferred forum for discussing questions and issues regarding the HGVS Nomenclature. Messages sent to hgvs-nomenclature@googlegroups.com will be distributed to members by email. You do not need to be a member to send a message to the group. However, you will not see a reply unless you join the group or manually check the HGVS Nomenclature conversation archive.
When members of the community reach out to the HGVS nomenclature committee with questions via the google group email, we aim to respond within 2 business days of email receipt. If you haven’t received a response within four business days, please post a reminder under your question in the google group. For a more expedited response in relation to a clinical case, please indicate this in both the subject line and body of the email inquiry. We cannot guarantee that even clinical inquiries will be addressed outside of business hours or on weekends.
Contribute ideas and proposals#
See Community Consultation for proposals, including how to submit a proposal for future versions of the HGVS Nomenclature.
Citations#
HGVS Nomenclature 2024: Improvements to community engagement, usability, and computability.
Hart RK, Fokkema IFAC, DiStefano M, Hastings R, Laros JFJ, Taylor R, Wagner A, den Dunnen JT
On behalf of the HGVS Variant Nomenclature Committee (HVNC)
Genome Med 16, 149 (2024).
doi:10.1186/s13073-024-01421-5 | PubMed:39702242 | PDF
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PEM,
On behalf of the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organisation (HUGO)
Hum Mutat 37(6):564-9 (2016).
doi:10.1002/humu.22981 | PubMed:26931183 | PDF
A note about our name#
We've called ourselves by lots of names, including "VarNomen", "MutNomen", "HGVS Recommendations", "HGVS Guidelines", and even just "HGVS" colloquially. We recognize that this has caused confusion in the community. Please call the specification "HGVS Nomenclature".
Availability#
The code repository from which the HGVS Nomenclature is rendered contains both written text recommendations and associated code. The licensing for each is as follows:
Text describing the HGVS Nomenclature is released under the CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. See the LICENSE-CC0.txt file for details. Code, configuration files, and other computer-readable artefacts in the code repository are released under the MIT License. See the LICENSE.txt file for details.
