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Publications on the description of sequence variants#

Below, an overview of publications on the subject of sequence variant descriptions, from old to recent.



  • Antonarakis SE, McKusick VA (1994). Discussion on mutation nomenclature. Hum. Mutat. 4:166.


  • Ad Hoc Committee on Mutation Nomenclature (1996). Update on nomenclature for human gene mutations. Hum. Mutat. 8:197-202.
  • Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F (1996). Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum. Mutat. 8:203-206.


  • Antonarakis SE (1998). Recommendations for a nomenclature system for human gene mutations. Hum. Mutat. 11:1-3.


  • Den Dunnen JT, Antonarakis SE (2000). Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat. 15:7-12.
    • A modified version of this paper was published as:
      Den Dunnen JT, Antonarakis SE (2001). Nomenclature for the description of human sequence variations. Hum. Genet. 109:121-124.




  • Taschner PEM, Den Dunnen JT (2011). Describing structural changes by extending HGVS sequence variation nomenclature. Hum. Mutat. 32:507-511.
    NOTE: this proposal has been rejected.
  • Laros JF, Blavier A, Den Dunnen JT, Taschner PE (2011). A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. BMC Bioinformatics 12 Suppl 4:S5.


  • Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC (2014). Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am. J. Hum. Genet. 94:695-670.
    NOTE: official ISCN and HGVS recommendations differ significantly from this proposal.


  • Münz M, Ruark E, Renwick A, Ramsay E, Clarke M, Mahamdallie S, Cloke V, Seal S, Strydom A, Lunter G, Rahman N (2015). CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. Genome Med. 7:76.



  • Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z; Nomenclature group of the European Network for Human Congenital Imprinting Disorder (2018). Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. Epigenetics 13:117-121.
    NOTE: linked to Proposal SVD-WG005.