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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

32 entries on 1 page. Showing entries 1 - 32.
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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_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - - - MSH2_000041 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - 1-?_366+?del - MSH2_000041 Submitted by ICCon South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - 1-?_366+?del - MSH2_000041 Submitted by ICCon South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - del ex01-02 - MSH2_000041 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - del ex01-02 - MSH2_000041 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Del at least 27 kb upstream MSH2_ MSH2 ex2 - MSH2_000041 - - - - Germline - - - - - DNA Southern, MLPA - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - genomic del ex1-2 - MSH2_000041 - - - - Germline - - - - - DNA Southern - - ? - - CAPP2 study ? - Germany - - - - - 1 Juul Wijnen
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - del ex01-02 - MSH2_000041 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - del ex01-02 - MSH2_000041 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - - - MSH2_000041 del promoter - exon 2 - - - Germline - - - - - DNA MLPA - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.spl p.Met1_Lys122del Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - 1-?_366+?del (Del ex01-02 (30 Kb)) - MSH2_000041 Unknown José Luis Soto - - Germline - - - - - DNA MLPA, arrayCGH - - CRC - - - M - - - - - - - 1 INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - (?_-68)_366+?del - MSH2_000041 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - 4 affected carriers - - - - - - - - 1 INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - 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 - - - - - DNA SEQ, MLPA - - CRC - - - F - - - - - - - 1 INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - 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 - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - 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 - - - - - DNA MLPA - - CRC - - no family history M - - - - - - - 1 INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Exon 1 to Exon 2 1-?_366+?del - MSH2_000041 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - deletion exon 1-2 - MSH2_000041 Nº affected carriers / family:2 Gabriel Capellá - - Germline - - - - - DNA SEQ - - cancer, endometrial - - - - - - - - - - - 1 INSiGHT group
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Paternal (confirmed) - pathogenic g.(?_47630206)_(47635695_47637232)del - del Ex1_2 - MSH2_000041 Originally submitted by Isabel López Villar - - - Germline - - - - - DNA MLPA - - MRTES - - - F - Spain - - - - - 1 Daniel Rueda
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Wang 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Bunyan 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Baudhuin 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - 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 - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - 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 - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - 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 - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Di Fiore 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Overbeek 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - Deletion of Exon 1-2 - MSH2_000041 - PubMed: Papp 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Paternal (confirmed) - pathogenic g.(?_47630206)_(47635695_47637232)del - del Ex1_2 - MSH2_000041 Originally submitted by Isabel López Villar Lopez Villar I.et al, (unpublished) - - Germline - - - - - DNA MAPH - - ? - - - - - - - - - - - 1 Daniel Rueda
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Paternal (confirmed) - pathogenic g.(?_47630206)_(47635695_47637232)del - del Ex1_2 - MSH2_000041 Originally submitted by Isabel López Villar - - - Germline - - - - - DNA MAPH - - MRTES - - - - - Spain - - - - - 1 Daniel Rueda
+/. _1_2i c.(?_-125)_(366+1_367-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47635695_47637232)del - (?_-68)_366+?del/Del exon 1-2 - MSH2_000041 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
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