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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

27 entries on 1 page. Showing entries 1 - 27.
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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_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - - - MSH2_000043 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - del ex 1_16, >80kb - MSH2_000043 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern - - ? - PubMed: van der Klift 2005 - ? - Australia - - 0 - - 1 Juul Wijnen
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - del 1_16 - MSH2_000043 - - - - Germline - - - 0 - DNA Southern, MLPA - - ? - - - ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 - MSH2_000043 - - - - Germline - - - 0 - DNA MLPA, MAPH - - ? - - child, mental retardation;InSiGHT LOVDv2 ID:10396; ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - del 1_16 - MSH2_000043 - - - - Germline - - - 0 - DNA MLPA - - ? - - - ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - del ex01-16 - MSH2_000043 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - del ex01-16 - MSH2_000043 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - del ex01-16 - MSH2_000043 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - - - MSH2_000043 - Maurizio Genuardi - - Germline - - - 0 - DNA MLPA - - HNPCC - - - M - Italy white - 0 pedigree - 1 Maurizio Genuardi
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Maternal (confirmed) - pathogenic g.(?_47630206)_(47710367_?)del - - - MSH2_000043 - Maurizio Genuardi - - Germline - - - 0 - DNA MLPA - - HNPCC - - - M - Italy white - 0 pedigree - 1 Maurizio Genuardi
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - deletion EPCAM exon 3 (185-?) to MSH2 exon 16 (*272_?) - MSH2_000043 - Desiree du Sart - - Germline - - - 0 - DNA Southern - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion exons 1-16 - MSH2_000043 - - - - Unknown - - - 0 - DNA MLPA - - cancer - - - - - - - - 0 - - 1 James Whitworth
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: Wang 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: Grabowski 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: Wang 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: Pastrello 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: Pistorius 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16 - MSH2_000043 - PubMed: Pistorius 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - (?_-68)_(*272_?)del - MSH2_000043 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - 6 affected carriers ? - - - - 0 - - 1 INSiGHT group
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - (?_-68)_(*272_?)del - MSH2_000043 1x male 29 y CC asc. T3 N1, 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_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Exon 1 to Exon 16 1-?_2805+?del p.Met1_*935del - MSH2_000043 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Exon 1 to Exon 16 1-?_2805+?del p.Met1_*935del - MSH2_000043 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47710367_?)del - Exon 1 to Exon 16 1-?_2805+?del p.Met1_*935del - MSH2_000043 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? Unknown - NA g.(?_47630206)_(47710367_?)del - Deletion of Exon 1-16; Identified in CCRF± HSB-2 cell line - MSH2_000043 - PubMed: Gu 2002 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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