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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

42 entries on 1 page. Showing entries 1 - 42.
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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     
+/+ _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del - MSH2_000040 Submitted by ICCon South Australia - - - Germline - - - 0 - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - 0 - - 1 ICCon
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del - MSH2_000040 Submitted by ICCon South Australia - - - Germline - - - 0 - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - 0 - - 1 ICCon
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 Submitted by ICCon South Australia - - - Germline - - - 0 - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - 0 - - 1 ICCon
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern - - ? - PubMed: van der Klift 2005 - ? - Netherlands - - 0 - - 1 Juul Wijnen
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: Wijnen 1998, PubMed: van der Klift 2005, PubMed: Wagner 2002 - - Germline - - - 0 - DNA Southern - - ? - PubMed: Wijnen , 1998, PubMed: van der Klift 2005, PubMed: Wagner,A. 2002 - ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern - - ? - PubMed: van der Klift 2005 - ? - Germany - - 0 - - 1 Juul Wijnen
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del at least 15 kb upstream exon 1_ exon 1 - MSH2_000040 - - - - Germline - - - 0 - DNA Southern, MLPA - - ? - - - ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del at least 15 kb upstream exon 1 and exon 2 - MSH2_000040 - - - - Germline - - - 0 - DNA MLPA - - ? - - - ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Parent #1 - pathogenic g.(?_47630206)_(47630542_47635539)del - ex01del - MSH2_000040 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Promoter - Exon 1 - MSH2_000040 - PubMed: Becouarn 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Parent #1 - pathogenic g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 - PubMed: Wijnen 1998 - - Germline - - - 0 - DNA SEQ - - ? - - - ? - Netherlands - - 0 - - 1 INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del (Del ex01) - MSH2_000040 Maternal Inferred José Luis Soto - - Germline - - - 0 - DNA MLPA - - cancer, endometrial - - - F - - - - 0 - - 1 INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - (?_-68)_211+?del - MSH2_000040 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - 2 families: segregation LR 1.7 [Aus CCFR] - - - - - 0 - - 1 INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - (?_-68)_211+?del - MSH2_000040 1x male 41 y synchr. CC Coecum+C.ascendens, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Grabowski 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Wijnen 1998 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Charbonnier 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Wagner 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Wang 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Taylor 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Bunyan 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Huang 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Wehner 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Akrami 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 Authors describe the 26bp Alu core sequence as being located 66bp downstream from the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 Authors describe the 26bp Alu core sequence as being located 43bp downstream from the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 Authors describe the 26bp Alu core sequence as being located at the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Ponti 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Naseem 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Di Fiore 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Overbeek 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Ponz de Leon 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Pedroni 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Bujalkova 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - (?_-68)_211+?del - MSH2_000040 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 - - - 0 - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina - - 0 - - 1 Mev Dominguez Valentin
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