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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

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Owner     
+/. - c.2038C>T r.(?) p.(Arg680Ter) Unknown - pathogenic g.47703538C>T g.47476399C>T MSH2(NM_000251.2):c.2038C>T (p.Arg680*, p.R680*) - MSH2_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2038C>T r.(?) p.(Arg680Ter) Unknown - pathogenic g.47703538C>T g.47476399C>T MSH2(NM_000251.2):c.2038C>T (p.Arg680*, p.R680*) - MSH2_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T p.Arg680* - MSH2_000577 - PubMed: Thompson 2013 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Mark Jenkins
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T MLH1:2146G>A; MSH2:2038C>T p.(Arg680*) - MSH2_000577 - Mark Jenkins - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Parent #1 - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - - - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Levi 2007 - - Germline - - - - - DNA ? - - MRTES - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Wagner 2002, PubMed: Hendriks 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wagner,A. 2002, PubMed: Hendriks,Y. 2003 - ? - Netherlands - - - - - 1 Juul Wijnen
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T codon #670 CGA>TGA. Correct codon is 680 (Personal Communication, Wijnen). - MSH2_000577 - PubMed: Wijnen 1997 - - Germline - - - - - DNA SEQ - - ? - {PMID09311737:Wijnen,J. 1997} - ? - Norway - - - - - 1 Juul Wijnen
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T R680X - MSH2_000577 - PubMed: Wagner 2002 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wagner,A. 2002 CAPP2 study ? - Germany - - - - - 1 Juul Wijnen
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T R680X - MSH2_000577 - PubMed: Wagner 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wagner,A. 2002 CAPP2 study ? - United States - - - - - 1 Juul Wijnen
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 13 c.2038C>T r.(?) p.(Arg680*) Parent #1 - pathogenic g.47703538C>T g.47476399C>T C>T at 2038 - MSH2_000577 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - African - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Parent #1 - pathogenic g.47703538C>T g.47476399C>T C>T at 2038 - MSH2_000577 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - Western European - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Parent #1 - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Cunningham 2001 - - Germline - - - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Parent #1 - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - Deffenbaugh (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Parent #1 - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Farrington 1998 - - Germline - - - - - DNA SEQ - - ? - - - ? - Scotland - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Parent #1 - pathogenic g.47703538C>T g.47476399C>T G -> T at 2038 - MSH2_000577 - PubMed: Wijnen 1997; PubMed: Grindedal 2009 - - Germline - - - - - DNA SEQ - - ? - - - ? - Norway - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Grindedal 2009; PubMed: Sjursen 2010 - - Germline - - - - - DNA ? - - cancer - - - F - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: South 2008; PubMed: Hampel 2008 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Wolf 2005 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Hegde 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Terdiman 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Raedle 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Cai 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Bisgaard 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Jenkins 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Wagner 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Fields 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Sun 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Rajkumar 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Casey 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Southey 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Yan 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T a 73 bp insertion that results in a frameshift - MSH2_000577 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T C680 - MSH2_000577 - PubMed: Jenkins 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Barnetson 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - PubMed: Goldberg 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - CRC - - Muir-Torre syndrome?;InSiGHT LOVDv2 ID:1013098; M - Italy white - - pedigree - 1 Maurizio Genuardi
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T 2038C>T - MSH2_000577 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - 4 affected carriers ? - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T 2038C>T - MSH2_000577 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T 2038C>T - MSH2_000577 4x, 1x Amsterdam 1 pos. , 2x MSI-H, 2x IHC loss of MSH2 + MSH6, MLH1 + PMS2 pos., age of onset 36y - 62 y CC, 2x synchr. CC Elke Holinski-Feder and Monika Morak - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T 2038C>T - MSH2_000577 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T Exon 13 2038C>T p.Arg680* - MSH2_000577 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T MSH2:2038C>T - MSH2_000577 - Ian Frayling - Edinburgh - - Germline - - - - - DNA SEQ - - ? - - 5 affected carriers ? - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T MSH2:2038C>T - MSH2_000577 - Pal Moller - - Germline - - - - - DNA SEQ - - ? - - One family, 5 informative meioses, prob pathogenic 0.969 ? - - - - - - - 1 INSiGHT group
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T 2038C>T - MSH2_000577 - {PMID:Bisgaard Hum Mutat. 2002 Jul;20(1):20-7.:12112654}; {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T 2038C>T - MSH2_000577 - - - - De novo - - - - - DNA ? - screen data 2011-01-01 cancer, rectal - Colas - M - - - - - - - 1 Ian Frayling
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T 2038C>T - MSH2_000577 WT MaxEntScan score: 8.23; Variant MaxEntScan score: 8.23; 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 - - Chile - - - - - 1 Mev Dominguez Valentin
+/. - c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T Nonsense - MSH2_000577 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T Nonsense - MSH2_000577 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. 13 c.2038C>T r.(?) p.(Arg680*) Unknown - pathogenic g.47703538C>T g.47476399C>T - - MSH2_000577 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2038C>T r.(?) p.(Arg680Ter) Unknown - pathogenic g.47703538C>T - MSH2(NM_000251.2):c.2038C>T (p.Arg680*, p.R680*) - MSH2_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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