Full data view for gene MSH2


MSH2 variants 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000251.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

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Owner     
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic (dominant) g.47656969C>T g.47429830C>T - - MSH2_000311 - Cherbal ASHG2018 P2788 - - Germline/De novo (untested) - - - - - DNA SEQ - several exons risk genes CRC ASHG2018-P2788 Cherbal ASHG2018 P2788 - - - Algeria - - - - - 1 Johan den Dunnen
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T R389X - MSH2_000311 - PubMed: Wagner 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wagner,A. 2002 CAPP2 study ? - United States - - - - - 1 Juul Wijnen
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 7 c.1165C>T r.(?) p.(Arg389*) Parent #1 - pathogenic g.47656969C>T g.47429830C>T C>T at 1165 - MSH2_000311 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Parent #1 - pathogenic g.47656969C>T g.47429830C>T C>T at 1165 - MSH2_000311 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - Western European - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Parent #1 - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Brieger 1999 - - Germline - - - - - DNA SEQ - - ? - - - ? - Germany - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Parent #1 - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Chong 2009 - - Germline - - - - - DNA SEQ - - ? - - - ? - Canada French Canadian - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Parent #1 - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - West (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Mangold 2004 - - Germline - - - - - DNA ? - - MRTES - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Millar 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 Somatic PubMed: Cunningham 2001 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Raedle 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Caldes 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Wagner 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Sutter 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Roupret 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Caldes 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Casey 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Pinol 2005; PubMed: Perez-Carbonell 2012 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Roupret 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Sanchez de Abajo 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Mongiat-Artus 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - PubMed: Overbeek 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - - - - Germline - - - - - DNA SEQ - - ? - Mount Sinai Hospital, Toronto - ? - - - - - - - 1 Bharati Bapat
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - M - Italy white - - pedigree - 1 Maurizio Genuardi
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - 4 affected carriers ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 Total 2 gene carriers developed canecr in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 4x, 2x A1 pos. family history, 2x MSI-H, IHC loss of MSH2, MSH6 n.a., MLH1 pos., age of onset 39-47-50-45 y, adenomas, CC and EC Elke Holinski-Feder and Monika Morak - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T Exon 7 1165C>T p.Arg389* - MSH2_000311 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T Exon 7 1165C>T p.Arg389* - MSH2_000311 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T Exon 7 1165C>T p.Arg389* - MSH2_000311 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T Exon 7 1165C>T p.Arg389* - MSH2_000311 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T Exon 7 1165C>T p.Arg389* - MSH2_000311 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T MSH2:1165C>T - MSH2_000311 - Ian Frayling - Liverpool - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 Nº affected carriers / family:1 Gabriel Capellá - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 Nº affected carriers / family:1 Gabriel Capellá - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.1165C>T r.(?) p.(Arg389*) Maternal (inferred) - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - - - - Unknown - - - - - DNA SEQ - - CRC - - - F - - - - - pedigree - 1 Treena Cranston
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 - PubMed: Nilbert 2009 - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T 1165C>T - MSH2_000311 WT MaxEntScan score: 5.25; Variant MaxEntScan score: 5.25; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Colombia - - - - - 1 Mev Dominguez Valentin
+/. - c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T Nonsense - MSH2_000311 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T Nonsense - MSH2_000311 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 ICCON data, Prince of Wales Hospital, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1165C>T r.(?) p.(Arg389Ter) Unknown - pathogenic g.47656969C>T g.47429830C>T MSH2(NM_000251.2):c.1165C>T (p.(Arg389Ter), p.R389*) - MSH2_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1165C>T r.0? p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - - - - De novo - - - - - DNA SEQ-NG - - cancer, colon - - - M no France - - - - - 1 Florence Coulet
?/. - c.1165C>T r.(?) p.(Arg389*) Parent #1 - NA g.47656969C>T - chr2_47656969_C_T - MSH2_000311 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown - pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - - - - Germline/De novo (untested) - - - - - DNA SEQ - year test performed: 2015 CRC - - - F - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
+/. - c.1165C>T r.(?) p.(Arg389Ter) Unknown - pathogenic g.47656969C>T - MSH2(NM_000251.2):c.1165C>T (p.(Arg389Ter), p.R389*) - MSH2_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1165C>T r.(?) p.(Arg389*) Paternal (inferred) ACMG pathogenic (dominant) g.47656969C>T - - - MSH2_000311 - PubMed: Boumehdi 2022 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) L1606 PubMed: Boumehdi 2022, Journal: Boumehdi 2022, Journal: Cherbal 2019, Abs655 3-generation family, 6 affected (2F, 4M) M no Algeria - - - - - 6 Farid Cherbal
+/. - c.1165C>T r.(?) p.(Arg389Ter) Unknown - pathogenic g.47656969C>T - MSH2(NM_000251.2):c.1165C>T (p.(Arg389Ter), p.R389*) - MSH2_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.1165C>T r.(?) p.(Arg389*) Unknown ACMG pathogenic g.47656969C>T g.47429830C>T - - MSH2_000311 - - - - Germline - - - - - DNA SEQ-NG-I - - HNPCC (Lynch) MSI-MSI/105/P-265 - - M ? India - - - - - 1 Harsh Sheth
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