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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

55 entries on 1 page. Showing entries 1 - 55.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

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Methylation     

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+/+ 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA ? - - - - - - - - United Kingdom (Great Britain) - - - - - 1 Ian Frayling
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - - cancer, endometrial - - Mother of proband had endometrial at 62y and colon at 67y F - United States Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - - ?, CRC - - mother CRC 70, brother brain tumor at 10 F - United States Asian/Native American - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - - ?, CRC - - 60yo Asian/Caucasian F dx with 6-9 adenomatous polyps and CRc AT 40; sister thyroid ca at 30 and breast ca at 53 and then uterine(?)/ovarian(?) at 59, brother CRC 41, mother ovarian at 40, father CRC and prostate in his 70s F - United States Asian/white - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - - CRC - - 76yo Asian F dx with CRC; daughter stomach ca 53, son glioblastoma 12 F - United States Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - - cancer, endometrial - - 58yo Asian F dx with endometrial ca at 57, MSH2 and MSH6 absent on IHC F - United States Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - - cancer, endometrial - - 57yo Asian F dx with endometrial ca at 46; mother transitional cell of the ureter at 76 and stomach/pancreatic at 80, brother CRC at 32. Family meets Amsterdam II criteria. F - United States Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - CancerNext-Expanded Panel CRC, cancer, endometrial - - 63yo Asian F w/ endometrial ca @48 and colon ca @63; mom w/ panc ca @63, pat aunt w/ breast ca, pat aunt w/ liver ca, pat aunt w/ colon ca @50s, pat uncle w/ colon ca @50s F - United States Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - CancerNext Panel Healthy/Control - - sister-ut@46; sister-br@46; sister-br@54; sister-br@42; brother-gallbladder@44 F - United States Filipino - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - - CRC, cancer, endometrial - - 48yo Asian F w/ endometrial vca @37 and colon ca @46; mother w/ cervicalca @48, mat aunt w/ liverca @37 F - United States Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA ? - ColoNext Panel CRC - - 71yo Asian F w/ colon ca; paternal hx unknown, dad died in 20s F - United States Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 Submitted by ICCon South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - PubMed: Mangold 2005 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - PubMed: Ollila 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - Germany - - - - - 1 Juul Wijnen
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - {Clinvar:Ambry;SCV000275379.1} - - Germline - - - - - DNA SEQ - MSH2, PALB2, MSH6 seq and del/dup, EPAM del/dup CRC - - mother endometrial ca dx in 60s; maternal GM CRC and endometrial ca; father bladder ca dx 65; brother dx with bladder ca in 30s?; sister dx with bladder ca in 20s?; multiple maternal aunts and uncles dx with CRC, endometrial, bladder cancers (ages at dx unknown). Close to meeting Amsterdam criteria, but no one dx with Lynch associated cancer under the age of 50. F - United States white, Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Parent #1 - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - PubMed: Betz 2010 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Parent #1 - pathogenic g.47643490G>A g.47416351G>A G -> A at 998 - MSH2_000539 - Bennett (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - Australia - - - - - 1 INSiGHT group
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - geogr. origin: Australia;InSiGHT LOVDv2 ID:1000205; ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Ollila 2006 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - 2 affected patients in this HNPCC family, mean age at onset: 41 years old;InSiGHT LOVDv2 ID:1000206; ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Ollila 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Ollila 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - PubMed: Ward 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 Authors describe this variant as affecting protein stability. PubMed: Ollila 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A 998G>A - MSH2_000539 - Loic Le Marchand and Terrilea Burnett - - Germline - - - - - DNA SEQ - - ? - - Hawaiian proband ? - - - - - - - 1 INSiGHT group
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A 998G>A - MSH2_000539 - Loic Le Marchand and Terrilea Burnett - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A 998G>A - MSH2_000539 - Liying Zhang - - Germline - - - - - DNA SEQ - - cancer - - BRAF V600E mutation status: n/a; BRAF testing method: ;InSiGHT LOVDv2 ID:1016890; F - - - - - - - 1 INSiGHT group
+/. 6 c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A - - MSH2_000539 - PubMed: Fazekas-Lavu 2017 - - Germline - - - - - DNA ? - - cancer, CRC - PubMed: Fazekas-Lavu 2017 The family history included ovarian, endometrial, and colon cancer in several first-degree relatives F - - - - - - - 1 InSiGHT - John-Paul Plazzer
+/. - c.998G>A r.(?) p.Cys333Tyr Unknown - pathogenic g.47643490G>A g.47416351G>A missense variants or in frame indels - MSH2_000539 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - NA g.47643490G>A g.47416351G>A - - MSH2_000539 Site directed mutagenesis. Functional analysis demonstrated 1% steady-state levels of MSH2 and a loss of interaction with all MSH2 partners. NOTE: Functional analysis was done on the corresponding yeast allele C345Y. PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - NA g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - NA g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - NA g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - NA g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Ollila 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - NA g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Ollila 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.998G>A r.998g>a p.Cys333Tyr Unknown - NA g.47643490G>A g.47416351G>A C333Y - MSH2_000539 {GR:113} PubMed: Ollila 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.998G>A r.(?) p.(Cys333Tyr) Unknown - pathogenic g.47643490G>A g.47416351G>A MSH2(NM_000251.2):c.998G>A (p.C333Y) - MSH2_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.998G>A r.(?) p.(Cys333Tyr) Parent #1 - NA g.47643490G>A - chr2_47643490_G_A - MSH2_000539 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.998G>A r.(?) p.(Cys333Tyr) Parent #1 - NA g.47643490G>A - chr2_47643490_G_A - MSH2_000539 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. - c.998G>A r.(?) p.(Cys333Tyr) Unknown - NA g.47643490G>A - - - MSH2_000539 RNA DATA pCAS2 minigene splicing assay in HeLa cells 2 independent experiments (Inserm U1245, Rouen, France: No effect on exon 6 splicing - - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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