Newsletter No. 4

January 2003

(Previous HUGO-MDI newsletters may be found on our website at:, these may be helpful for new members to familiarize themselves with our projects).

Inside this Issue:



Recent Publications of Interest

Calendar of Events



We are pleased to report that HGVS membership has been growing. A survey shows that 60% of HGVS members are from Europe, 38% from North America and the remaining 2% the rest of the world. Most 2002 members have renewed their memberships and we have solicited some new ones for 2003. If you still have not renewed and would like to do so, please fill out the form here.

Impact Factor

You have probably seen that the impact factor of our journal Human Mutation has dramatically increased this last year to 6.134. This places Human Mutation 12th in a competitive field of 113 Genetics and heredity journals (ISI 2001 figures).

Baltimore Meeting

Our scientific and Annual General Meeting was held in Baltimore, 15th October 2002 as a satellite meeting of the American Society of Human Genetics. This meeting attracted 58 registrants from around the world. Abstracts were presented in the morning and during the afternoon productive discussion occurred. The program with abstracts is available on our Website on the "meeting reports" link. Overall, the meeting was a huge success. The AGM minutes will be sent shortly to all HGVS members via email.

Nomenclature for the description of sequence variations

The guidelines have been moved courtesy of Dr. Johan T. den Dunnen from the Leiden Mutation Database pages to the HGVS website under "recommendations". You should all familiarize yourselves with and use these mutation nomenclature guidelines.

Call for Abstracts- Cancun Scientific Meeting, 27 April

We are inviting all members and others to submit their abstracts for the Cancun Scientific meeting as soon as possible so the program may be set. This meeting is a satellite of HGM2003, HUGO's Human Genome Meeting. All abstracts relating to human genome variation, especially those with a database of variations or nomenclature slant will be considered. You need to get your abstract in early if you would like an oral presentation. If you know you will attend, please submit your abstract or at least register for the meeting and let us know the topic of your presentation as soon as possible so relevant arrangements may be made. Registrations without presentations are also accepted. Registration form & more information here.


All members who wish to make an announcement of interest to members in these newsletters please send a short paragraph to Rania at ( to be included in the next issue.

A Nomenclature Question

There are terms such as missense to signify a mutation changing one amino acid to another, and nonsense for an amino acid to a stop codon. Are you aware of a term that would describe a mutation that'd change a stop codon to a normal amino acid (for example p.X487C)?

Thanks, Andrew Grimm Coordinator RettBASE: IRSA MECP2 Variation Database

Replies to: and cc to

Gene Nomenclature

The HUGO Gene Nomenclature Committee (HGNC) has to date provided unique gene symbols for over half of the estimated 30,000 human genes. As we progress through the genome assigning new symbols to the annotated sequence, we are also identifying sequence for a number of genes where previously only the chromosomal location was known. To help us with this challenge we have set up a "Virtual Gene Nomenclature Workshop", with a webpage for each chromosome based at URL: We hope that by using both the knowledge of the scientific community and the processing power of the genome browsers, we will be able to add significantly to the number of genes identified in the human sequence. Please contact us via email at for further information, or to offer your help.

Thank you, Hester Hester Mary Wain PhD, Nomenclature Project Manager and Editor, HUGO Gene Nomenclature Committee, The Galton Laboratory, University College London, UK,

Call for Mutation Databases

If you know of any mutation databases or related databases that should be listed on the HGVS Web-pages, please let Rania know details such as URL, gene(s), OMIM number(s) and curator(s).

New Mutation Database Announcement

The Human MLYCD Allelic Variant Database (MLYCD, OMIM #248360)

Curator: Patrick Wightman, MRC Human Genetics Unit, Edinburgh, UK



Nucleic Acids Research January 2003 Database Issue.

Proposal for an Allele Nomenclature System Based on the Evolutionary Divergence of Haplotypes. Nebert D.W. Hum Mutat. 20:463-472


HGVS Scientific Meeting

Date: Sunday 27th April, 2003
Time: 9:00AM - 5:00PM (not final)
Venue: Cancun Convention Centre, Cancun, Mexico
Registration: HGVS & HUGO members US$45 (i.e. a 25% reduction)
Non-HGVS or HUGO members: US$60

Register here
Abstracts: All HGVS members & others are invited to send in an abstract. All abstracts MUST be received by 31st March 2003 and are to be submitted electronically on the Website. There is more chance of an oral presentation if you get your abstract in early! (Note you do not need to submit an abstract to attend the meeting.)
Organizers: R. Horaitis, Executive Secretary HGVS
R.G.H. Cotton, President HGVS

Mutation Detection 2003

VII International Symposium on Mutations in the Human Genome

2 - 6 July 2003

Palm Cove, Tropical North Queensland, Australia

(Satellite of XIX International Congress of Genetics "Genomes-The Linkage to Life" 6 - 12 July, 2003 Melbourne, Australia)

Link to Palm Cove Meeting Website

1st ANNOUNCEMENT - HGVS Scientific and Annual General Meeting

Los Angeles, CA, U.S.A

Satellite of American Society of Human Genetics Annual Meeting

Tuesday 4th November 2003, 8:00AM-8:00PM

No details yet, watch our Webpage or newsletters around March for more detials. Mark this date in your diary, especially if you are a member!

To join the HGVS - click here

© Copyright HUGO MDI 2003 Created by Rania Horaitis Posted Jan 20, 2003
Coordinator Rania Horaitis