MMR Gene Unclassified Variants Database (www.mmruv.info)

Curators: Rolf Sijmons and Robert Hofstra,
dept. of Genetics, University Medical Center Groningen,
Groningen, The Netherlands

This database is a work in progress. It contains information from functional assays and other type of data to support the interpretation of MMR gene unclassified variants. One of its goals is to support the international UV interpretation committees of InSiGHT (http://www.insight-group.org/) in collaboration with the Human Variome Project (HVP).

Classifications of the outcome of each of the individual functional tests or in silico analyses are given for research purposes only. For additional information on MMR gene mutations, we would like to refer the reader to: the mutation database of InSiGHT (http://www.insight-group.org/) and the mismatch repair genes variant database of the Memorial University of Newfoundland (http://www.med.mun.ca/MMRvariants/) which has also been made available through the LOVD (http://chromium.liacs.nl/LOVD2/home.php ). Another resource is the HGMD (http://www.hgmd.cf.ac.uk/ac/index.php , most up-to-date information not freely available).

News
May/June 2008: As a result of the work with our colleagues in the InSiGHT committees and communication with other researchers we are currently restructuring this database. Some of the new fields may therefore still be empty and/or redundant. The latest change is that we have hidden our personal overall classification of pathogenicity of the UVs in this database pending formal classification by the international experts of the recently installed InSiGHT MMR gene UV interpretation committee. Classification for each of the individual tests is not hidden.

July 2008: A copy of our database will be converted to the LOVD format (http://chromium.ilacs.nl/LOVD2/home.php) to test linking with the InSiGHT and Woods database. Most up-to-date data will, however, be found on our own website. Next step is to work on automatic updating the LOVD hosted copy, which may eventually replace the original database.

General remarks
Reference sequences for the genes in this database: MLH1, MSH2, MSH6, PMS2, MLH3 
Mutation nomenclature used follows the standard reported here: http://www.hgvs.org/mutnomen/

Part of the research for this database was financially supported by a grant from the Dutch Cancer Society (RUG 2002-2678). The technical development of the web site was financially supported by a grant from the European Union 6th Framework (MMR-related Cancer Project). Curation of this database is financially supported by the department of Genetics of the University Medical Center Groningen.

date of last update: August 11th, 2008