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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

41 entries on 1 page. Showing entries 1 - 41.
Legend   How to query  

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     
-/. - c.435T>G r.(?) p.(Ile145Met) Unknown - benign g.47637301T>G g.47410162T>G MSH2(NM_000251.2):c.435T>G (p.I145M, p.(Ile145Met)), MSH2(NM_000251.3):c.435T>G (p.I145M) - MSH2_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.435T>G r.(?) p.(Ile145Met) Parent #1 - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/? 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 Insight class: 3 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 - PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.435T>G r.(?) p.(Ile145Met) Parent #1 - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 - PubMed: Kantelinen 2012 - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - - - - 1 Rolf Sijmons
+/. 3 c.435T>G r.(?) p.(Ile145Met) Parent #1 - pathogenic g.47637301T>G g.47410162T>G T -> G at 435 - MSH2_000275 - Deffenbaugh (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 3 c.435T>G r.(?) p.(Ile145Met) Parent #1 - pathogenic g.47637301T>G g.47410162T>G T -> G at 435 - MSH2_000275 - PubMed: Plevova 2004 - - Germline - - - - - DNA SEQ - - ? - - - ? - Czech Republic - - - - - 1 INSiGHT group
?/. 3 c.435T>G r.(?) p.(Ile145Met) Parent #1 - VUS g.47637301T>G g.47410162T>G T>G at 435 - MSH2_000275 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - Western European - - - - 1 INSiGHT group
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 - PubMed: Kariola 2003 - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - geogr. origin: Czech republic, Western Europe and Poland;InSiGHT LOVDv2 ID:1000166; ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G 503T>G I145M. - MSH2_000275 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - cancer, kidney - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 - PubMed: Pinol 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 - PubMed: Kurzawski 2006; PubMed: Dymerska 2010 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 - PubMed: Spaepen 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - likely pathogenic g.47637301T>G g.47410162T>G - - MSH2_000275 Authors describe this as a possible mutation when coupled with hMSH6 mutation PubMed: Kariola 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G MSH2:435T>G - MSH2_000275 - Maija Kohonen Corish - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G 2633_2634delAG + 435T>G - MSH2_000275 Maternal Inferred José Luis Soto - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G 435T>G - MSH2_000275 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G 435T>G - MSH2_000275 WT MaxEntScan score: 6.25; Variant MaxEntScan score: 6.25; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina - - - - - 1 Mev Dominguez Valentin
?/. - c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G - - MSH2_000275 - PubMed: Duraturo 2015 - - Germline - - - - - DNA ? - - cancer, colon - PubMed: Duraturo 2015 maternal; grandmother died of rectal; cancer at age 77 - - Italy - - - - - 1 InSiGHT - John-Paul Plazzer
?/. - c.435T>G r.(?) p.(Ile145Met) Unknown - VUS g.47637301T>G g.47410162T>G I145M - MSH2_000275 - PubMed: Wielders 2013 - - Germline - - - - - DNA ? - - - - PubMed: Wielders 2013 - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - NA g.47637301T>G g.47410162T>G - - MSH2_000275 Site directed mutagenesis. Functional analysis demonstrated 89% steady-state levels of MSH2 and a positive interaction with all MSH2 partners. NOTE: Functional analysis was done on the corresponding yeast allele I141M. PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - NA g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Kariola 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - NA g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Kariola 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - NA g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - NA g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.435T>G r.(?) p.(Ile145Met) Unknown - NA g.47637301T>G g.47410162T>G I145M - MSH2_000275 {GR:149} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.435T>G r.(?) p.(Ile145Met) Parent #1 - NA g.47637301T>G - chr2_47637301_T_G - MSH2_000275 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 - 34/60466 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 - 34 BRIDGES consortium
?/. - c.435T>G r.(?) p.(Ile145Met) Parent #1 - NA g.47637301T>G - chr2_47637301_T_G - MSH2_000275 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 - 36/53461 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 - 36 BRIDGES consortium
-?/. - c.435T>G r.(?) p.(Ile145Met) Unknown - likely benign g.47637301T>G - MSH2(NM_000251.2):c.435T>G (p.I145M, p.(Ile145Met)), MSH2(NM_000251.3):c.435T>G (p.I145M) - MSH2_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.435T>G r.(?) p.(Ile145Met) Unknown - benign g.47637301T>G - MSH2(NM_000251.2):c.435T>G (p.I145M, p.(Ile145Met)), MSH2(NM_000251.3):c.435T>G (p.I145M) - MSH2_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.435T>G r.(?) p.(Ile145Met) Unknown - benign g.47637301T>G - MSH2(NM_000251.2):c.435T>G (p.I145M, p.(Ile145Met)), MSH2(NM_000251.3):c.435T>G (p.I145M) - MSH2_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435T>G r.(?) p.(Ile145Met) Unknown - likely benign g.47637301T>G - MSH2(NM_000251.2):c.435T>G (p.I145M, p.(Ile145Met)), MSH2(NM_000251.3):c.435T>G (p.I145M) - MSH2_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.