About us

Curators: Rolf Sijmons and Robert Hofstra, Department of Genetics, University Medical Center Groningen (UMCG), Groningen, The Netherlands.

Last updated: August 15, 2025

This research-focused database supports the interpretation of unclassified variants (UVs) in mismatch repair (MMR) genes.
It integrates results from functional assays, in silico analyses, and other relevant evidence to aid the international genetics community.
A key objective is to support the InSiGHT UV Interpretation Committees in collaboration with the
Human Variome Project (HVP).

Research use only: Classifications of outcomes from individual functional tests or in silico analyses
are provided for research purposes and should not be used as stand-alone clinical guidance.

Where to find comprehensive mutation data

For consolidated, clinically oriented information on MMR gene mutations, please visit the merged
InSiGHT mutation database, which combines the original InSiGHT database,
the mismatch repair genes variant database of the Memorial University of Newfoundland
(MMRvariants), and our resource.
Another reference is the HGMD
(note: most up-to-date content requires a subscription).

Our mission

  • Collect and curate evidence from functional assays and computational analyses for MMR gene variants.
  • Support expert committees working on variant interpretation and classification.
  • Foster transparent, collaborative research across the genetics community.

A living resource

The database is a work in progress and is updated as new publications and insights emerge.
If you find any inaccuracies (e.g., typographical errors or misinterpretations of published data), please contact us so we can correct them promptly.

General remarks

Reference sequences for genes included in this database: MLH1, MSH2, MSH6, PMS2, MLH3.
Mutation nomenclature follows the HGVS recommendations:
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.

Acknowledgments

  • Dutch Cancer Society (RUG 2002-2678)
  • European Union 6th Framework (MMR-related Cancer Project)
  • Department of Genetics, University Medical Center Groningen (UMCG)