Chapter 2 - Describing DNA Variants (Mutation Nomenclature)

Abstract

The consistent and unambiguous description of sequence variants is essential for reporting and exchanging information on the analysis of a genome, in particular in DNA diagnostics. The sequence variant nomenclature system proposed by the Human Genome Variation Society (HGVS) has been widely adopted and developed into an internationally accepted standard. The recommendations are commissioned through the Sequence Variant Description Working Group (SVD-WG) operating under the auspices of three international organizations: the HGVS, the Human Variome Project, and the Human Genome Organization. Requests for modifications and extensions go through the SVD-WG following a standard procedure, including a community consultation step. Here we describe the current recommendations (HGVS version 15.11), explain their rationale, give example descriptions, and point users to available support tools. An extensive version of the recommendations is available at http://www.HGVS.org/varnomen/.