All variants in the MSH2 gene


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - - - MSH2_000041 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - 1-?_366+?del - MSH2_000041 Submitted by ICCon South Australia - - - Germline - - - 0 - ICCon
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - 1-?_366+?del - MSH2_000041 Submitted by ICCon South Australia - - - Germline - - - 0 - ICCon
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - del ex01-02 - MSH2_000041 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - del ex01-02 - MSH2_000041 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Del at least 27 kb upstream MSH2_ MSH2 ex2 - MSH2_000041 - - - - Germline - - - 0 - Carli Tops
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - genomic del ex1-2 - MSH2_000041 - - - - Germline - - - 0 - Juul Wijnen
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - del ex01-02 - MSH2_000041 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - del ex01-02 - MSH2_000041 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - - - MSH2_000041 del promoter - exon 2 - - - Germline - - - 0 - Elke Holinski-Feder
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.spl p.Met1_Lys122del - pathogenic g.(?_47630206)_(47635695_47637232)del - 1-?_366+?del (Del ex01-02 (30 Kb)) - MSH2_000041 Unknown José Luis Soto - - Germline - - - 0 - INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - (?_-68)_366+?del - MSH2_000041 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - (?_-68)_366+?del - MSH2_000041 - Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - 0 - INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - (?_-68)_366+?del - MSH2_000041 1x female 36 y CC, MSI-H, IHC loss of MSH2 + MSH6, MLH1+PMS2 positive, Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - 0 - INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - 1_366del - MSH2_000041 Exon 1 and 2 deleted Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - 0 - INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Exon 1 to Exon 2 1-?_366+?del - MSH2_000041 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - deletion exon 1-2 - MSH2_000041 Nº affected carriers / family:2 Gabriel Capellá - - Germline - - - 0 - INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - del Ex1_2 - MSH2_000041 Originally submitted by Isabel López Villar - - - Germline - - - 0 - Daniel Rueda
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Wang 2003 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Bunyan 2004 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 Authors describe the 26bp Alu core sequence as being located 208bp upstream from the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 Authors describe the 26bp Alu core sequence as being located 25bp downstream from the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 Authors describe the 26bp Alu core sequence as being located at the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Di Fiore 2004 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Overbeek 2007 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Papp 2007 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - del Ex1_2 - MSH2_000041 Originally submitted by Isabel López Villar Lopez Villar I.et al, (unpublished) - - Germline - - - 0 - Daniel Rueda
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - del Ex1_2 - MSH2_000041 Originally submitted by Isabel López Villar - - - Germline - - - 0 - Daniel Rueda
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47635695_47637232)del - (?_-68)_366+?del/Del exon 1-2 - MSH2_000041 - - - - Germline - - - 0 - Thomas Hansen
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