MSH2 gene homepage
classified by the InSiGHT consortium
: criteria used for classification are available here
. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template
which can be emailed to the curator.
||mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)|
||NM_000251.2 exon/intron table|
|Associated with diseases
||HNPCC, HNPCC-1 (Lynch), MMRCS, MRTES, Adenoma sebaceum|
||Genomic reference sequence|
||InSiGHT - John-Paul Plazzer, Mev Dominguez Valentin and Bryony A Thompson|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
|| this is one of the InSiGHT gene variant databases.|
We sincerely thank the George Hicks Foundation for their generous support of the curation of the InSiGHT database from 2010 to 2012. We are grateful for the ongoing funding for curation which is provided by the Royal Melbourne Hospital foundation.
NOTE: this database was initiated by merging entries from the MMR, InSiGHT and MMRUV databases (for links see the gene homepage). We want to gratefully acknowledge Amanda Dohey (Woods laboratory) to get this work done. We also want to thank Krista Mahoney (until 2011) and Johan den Dunnen (until 2018) for helping to curate the database.
||January 01, 2008|
|Date last updated
||March 30, 2020|
|Copyright & disclaimer|
|All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database. Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share their submitted data with external parties for research purposes or for sharing with other databases. Use of the data is for clinical diagnostic purposes. Use for research requires permission from the curator in conjunction with submitters' approval. InSiGHT expects that use of the data for commercial operations should be accompanied by payment commensurate to this use.|