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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

43 entries on 1 page. Showing entries 1 - 43.
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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     

Panel size     

Owner     
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - del ex08 - MSH2_000378 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - del ex08 - MSH2_000378 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Staaf 2008; PubMed: Lagerstedt Robinson 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Parent #1 - pathogenic g.(47657081_47672686)_(47672797_47690169)del - ex08del - MSH2_000378 - PubMed: Mangold 2005 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8, ~16.5 kb - MSH2_000378 - PubMed: van der Klift 2005 - - Germline - - - - - DNA Southern - - ? - PubMed: van der Klift 2005 - ? - Germany - - - - - 1 Juul Wijnen
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Wehner 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Kurzawski 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8. - MSH2_000378 This Muir-Torre patient also had a BRCA2 (542G>T) variant. PubMed: Tischkowitz 2006 - - Germline - - - - - DNA ? - - MRTES - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Bapat 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Marcus 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Wang 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Taylor 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8; 14.9 kb deletion occurring between two Alu sequences - MSH2_000378 - PubMed: Thiffault 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Ainsworth 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Durno 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: van der Klift 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Baudhuin 2005; PubMed: Win 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Woods 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Pastrello 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Zhang 2006; PubMed: Gylling 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Green 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Stuckless 2007; PubMed: Woods 2010 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Zhang 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8; g.26473245_26492527del19282 - MSH2_000378 - PubMed: Stella 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Vaughn 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Baudhuin 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Akrami 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Di Fiore 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - - - MSH2_000378 - Bapat, unpublished - - Germline - - - - - DNA MLPA - - ? - Mount Sinai Hospital - ? - - - - - - - 1 Bharati Bapat
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Deletion of Exon 8 - MSH2_000378 - PubMed: Staaf 2008, Genuardi (unpublished) - - Germline - - - - - DNA MLPA - - HNPCC (Lynch) - - - F - Italy white - - no pedigree - 1 Maurizio Genuardi
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - 1277-?_1386+?del - MSH2_000378 1x female 55 y C18.0 (Coecum-Ca) MSI-H, IHC loss of MSH2 + MSH6, MLH1+PMS2 positive, Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Exon 8 1277-?_1386+?del p.Lys427Glyfs*4 (reported as p.Lys427_Gln426>Glyfs*4) - MSH2_000378 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Exon 8 1277-?_1386+?del p.Lys427Glyfs*4 (reported as p.Lys427_Gln426>Glyfs*4) - MSH2_000378 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Exon 8 1277-?_1386+?del p.Lys427Glyfs*4 (reported as p.Lys427_Gln426>Glyfs*4) - MSH2_000378 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - Exon 8 1277-?_1386+?del p.Lys427Glyfs*4 (reported as p.Lys427_Gln426>Glyfs*4) - MSH2_000378 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - deletion exon 8 - MSH2_000378 Nº affected carriers / family:1 Gabriel Capellá - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - - - - - - - 1 INSiGHT group
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - 1277-?_1386+?del/Del exon 8 - MSH2_000378 - PubMed: Nilbert 2009 - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.1277_1386del p.Lys427Glyfs*4 Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - 1277-?_1386+?del - MSH2_000378 - - - - De novo - - - - - DNA ? - screen data 2011-01-01 cancer, cancer, rectal, CRC - C: in Win (2011) Father Skin;ns 67y, PR;Carcinoma 76y M - - - - - - - 1 Ian Frayling
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - 1277-?_1386+?del - MSH2_000378 WT MaxEntScan score: not determined; Variant MaxEntScan score: not determined; Difference in MaxEntScan score between variant and WT (%): not determined 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 - - Brazil - - - - - 1 Mev Dominguez Valentin
+/. 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - - - MSH2_000378 ICCON data, Prince of Wales Hospital, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - - - MSH2_000378 - - - - Germline/De novo (untested) - Not on gnomAD - - - DNA SEQ - year test performed: 2015 cancer, endometrial - - - F - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
+/+ 7i_8i c.(1276+1_1277-1)_(1386+1_1387-1)del r.(?) p.(Lys427Glyfs*4) Unknown - pathogenic g.(47657081_47672686)_(47672797_47690169)del - - - MSH2_000378 - - - - Germline/De novo (untested) - - - - - DNA SEQ - year test performed: 2018, MLH1, MSH2, MSH6 (panel) ? - - Selection criteria for proband testing: IHC F - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
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