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 new mutation database of InSiGHT. The original InSiGHT database has been merged with the mismatch repair genes variant database of the Memorial University of Newfoundland (http://www.med.mun.ca/MMRvariants/) and our database. This merged database can be found at http://chromium.liacs.nl/LOVD2/colon_cancer/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
July/August 2008: We have vastly expanded the data in our database, which now contains information on more than 500 MMR gene variants. MLH3, possibly involved in cancer predisposition/Lynch syndrome, has been added.

February 2009: We have corrected a few database errors and added some functional assays. A new update will be integrated with the InSiGHT database soon. The broken link from our database UVs to the LOVD/InSiGHT database entries has been fixed.

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/

Reference: Ou J, Niessen RC, Vonk J, Westers H, Hofstra RMW, Sijmons RH. A database to support the interpretation of human mismatch repair gene variants. Human Mutation 2008;29:1337-1341

If you find any mistakes in this database (e.g. typos or misinterpretation of your published data), then please contact us.

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: February 11th, 2009