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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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     
+/-? - c.4G>A r.(?) p.(Ala2Thr) Parent #1 - pathogenic g.47630334G>A g.47403195G>A - - MSH2_000276 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - - - Germany - - 0 - - 1 Andreas Laner
-?/-? 1 c.4G>A r.4g>a p.Ala2Thr Unknown InSiGHT likely benign g.47630334G>A g.47403195G>A - - MSH2_000276 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Mangold 2005; PubMed: Mangold 2005 - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Lucci-Cordisco 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Mangold 2005; PubMed: Mangold 2005 - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 1 c.4G>A r.4g>a p.Ala2Thr Parent #1 - VUS g.47630334G>A g.47403195G>A G>A at 4 - MSH2_000276 - Myriad et al., - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
?/. 1 c.4G>A r.4g>a p.Ala2Thr Parent #1 - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Mangold 2005; PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
?/. 1 c.4G>A r.4g>a p.Ala2Thr Parent #1 - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - - - - Germline - - - 0 - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - 0 - - 1 Rolf Sijmons
-?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - likely benign g.47630334G>A g.47403195G>A A2T - MSH2_000276 {GR:344} PubMed: Lastella 2006 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
-?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - likely benign g.47630334G>A g.47403195G>A A2T - MSH2_000276 {GR:344} PubMed: Lastella 2006 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
-?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - likely benign g.47630334G>A g.47403195G>A A2T - MSH2_000276 {GR:344} PubMed: Lastella 2006 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
-?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - likely benign g.47630334G>A g.47403195G>A A2T - MSH2_000276 {GR:344} PubMed: Lucci-Cordisco 2006 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
-?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - likely benign g.47630334G>A g.47403195G>A A2T - MSH2_000276 {GR:344} PubMed: Lucci-Cordisco 2006 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Pagenstecher 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Kurzawski 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/-? 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - F - - - - 0 pedigree - 1 Amie Blanco
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA SEQ - - CRC - - - M - - - - 0 pedigree - 1 Amie Blanco
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA SEQ - - CRC - - - M - - - - 0 pedigree - 1 Amie Blanco
?/. 1 c.4G>A r.4g>a p.Ala2Thr Unknown - VUS g.47630334G>A g.47403195G>A - - MSH2_000276 - - - - Germline - - - 0 - DNA SEQ - - cancer, endometrial - - - F - - - - 0 pedigree - 1 Amie Blanco
-?/. - c.4G>A r.(?) p.(Ala2Thr) Unknown - likely benign g.47630334G>A g.47403195G>A MSH2(NM_000251.2):c.4G>A (p.A2T, p.(Ala2Thr)) - MSH2_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4G>A r.(?) p.(Ala2Thr) Unknown - VUS g.47630334G>A g.47403195G>A MSH2(NM_000251.2):c.4G>A (p.A2T, p.(Ala2Thr)) - MSH2_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4G>A r.(?) p.(Ala2Thr) Parent #1 - NA g.47630334G>A - chr2_47630334_G_A - MSH2_000276 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 - 29/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 29 BRIDGES consortium
?/. - c.4G>A r.(?) p.(Ala2Thr) Parent #1 - NA g.47630334G>A - chr2_47630334_G_A - MSH2_000276 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 - 24/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 24 BRIDGES consortium
-?/-? 1 c.4G>A r.(?) p.(Ala2Thr) Unknown - likely benign g.47630334G>A g.47403195G>A - - MSH2_000276 - - - - Germline/De novo (untested) - Not on gnomAD - 0 - DNA SEQ - year test performed: 2016 CRC - - Selection criteria for proband testing: IHC M - (United Kingdom (Great Britain)) - - 0 - - 1 Treena Cranston
-/. - c.4G>A r.(?) p.(Ala2Thr) Unknown - benign g.47630334G>A - MSH2(NM_000251.2):c.4G>A (p.A2T, p.(Ala2Thr)) - MSH2_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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