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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

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Owner     
-/. - c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G MSH2(NM_000251.2):c.380A>G (p.N127S, p.(Asn127Ser), p.Asn127Ser), MSH2(NM_000251.3):c.380A>G (p.N127S) - MSH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G MSH2(NM_000251.2):c.380A>G (p.N127S, p.(Asn127Ser), p.Asn127Ser), MSH2(NM_000251.3):c.380A>G (p.N127S) - MSH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G MSH2(NM_000251.2):c.380A>G (p.N127S, p.(Asn127Ser), p.Asn127Ser), MSH2(NM_000251.3):c.380A>G (p.N127S) - MSH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G MSH2(NM_000251.2):c.380A>G (p.N127S, p.(Asn127Ser), p.Asn127Ser), MSH2(NM_000251.3):c.380A>G (p.N127S) - MSH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.380A>G r.367_645del p.Asn127Ser Unknown InSiGHT benign g.47637246A>G g.47410107A>G - - MSH2_000031 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.380A>G r.367_645del p.Asn127Ser Unknown - benign g.47637246A>G g.47410107A>G [380A>G(;)573C>T], p.[Asn127Ser(;)(=)] and p.(Ala123_Gln215del) - MSH2_000031 partial skipping of exon 3 (very weak skipping) as compared to two control individuals. No major allelic imbalance at position c.380 nor c.573 as determined by sequencing the gel-purified RT-PCR products. Alexandra Martins Research Group (RNA and Genetic Diseases, Inserm U1079, Rouen, France), unpublished - - Germline - - - - - RNA RT-PCR - Analysis of blood sample(PAXgene) from one carrier, screen date 2012-01-01 - - Alexandra Martins Research Group ("RNA and Genetic Diseases", Inserm U1079, Rouen, France), unpublished - - - - - - - - - 1 Alexandra Martins
-/. 3 c.380A>G r.367_645del p.Ala123_Gln215del Unknown - benign g.47637246A>G g.47410107A>G [380A>G(;)573C>T], p.[Asn127Ser(;)(=)] and p.(Ala123_Gln215del) - MSH2_000031 partial skipping of exon 3 (very weak skipping) as compared to two control individuals. No major allelic imbalance at position c.380 nor c.573 as determined by sequencing the gel-purified RT-PCR products. Alexandra Martins Research Group (RNA and Genetic Diseases, Inserm U1079, Rouen, France), unpublished - - Germline - - - - - RNA RT-PCR - Analysis of blood sample(PAXgene) from one carrier, screen date 2012-01-01 - - Alexandra Martins Research Group ("RNA and Genetic Diseases", Inserm U1079, Rouen, France), unpublished - - - - - - - - - 1 Alexandra Martins
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Mangold 2005 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 Authors describe this combination of missense and nonsense mutation to result in a younger age of manifestation. PubMed: Tanyi 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - de la Chapelle (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - Nigeria - - - - - 1 INSiGHT group
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - African - - - - 1 INSiGHT group
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - African - - - - 1 INSiGHT group
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Samowitz 2001 - - Germline - - - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 INSiGHT group
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Mangold 2005 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Poplawski 2005 - - Germline - - - - - DNA ? - - cancer, breast - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - VUS g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - geogr. origin: USA, Nigeria and african, age of onset: 40;InSiGHT LOVDv2 ID:1000165; ? - - - - - - - 1 Rolf Sijmons
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - VUS g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Adebamowo 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - VUS g.47637246A>G g.47410107A>G S127N - MSH2_000031 - PubMed: Schafmayer 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - - - rs17217772 Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Tanyi 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Chen-Shtoyerman 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Levene 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Hegde 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 Authors describe this variant as displaying no defect in the efficiency of the MMR reaction. PubMed: Ollila 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 daughter has p.Asn127Ser hetero + MLH1: c.1852_54delAAG; delLys618 - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Tanyi 2008 - - Germline - - - - - DNA SEQ - - CRC - - Family history: 3 cases of colon ca, breast ca (maternal), gastric and lung ca (paternal side).;InSiGHT LOVDv2 ID:1008485; M - - - - - - - 1 Michael Woods
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - VUS g.47637246A>G g.47410107A>G 380A>G - MSH2_000031 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
?/. 3 c.380A>G r.(?) p.(Asn127Ser) Parent #1 - VUS g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Levene 2003 - - Germline - ? - - - DNA SEQ - - ? - - - ? - United Kingdom (Great Britain) Afro Caribbean - - - - 1 INSiGHT group
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. - c.380A>G r.(?) p.Asn127Ser Unknown - benign g.47637246A>G g.47410107A>G - - MSH2_000031 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. 3 c.380A>G r.367_645del p.Asn127Ser Unknown - NA g.47637246A>G g.47410107A>G - - MSH2_000031 partial skipping of exon 3 PubMed: Tricarico 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.380A>G r.367_645del p.Ala123_Gln215del Unknown - NA g.47637246A>G g.47410107A>G - - MSH2_000031 partial skipping of exon 3 PubMed: Tricarico 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - NA g.47637246A>G g.47410107A>G - - MSH2_000031 Site directed mutagenesis. Functional analysis demonstrated 96% steady-state levels of MSH2 and a positive interaction with all MSH2 partners. NOTE: Functional analysis was done on the corresponding yeast allele N123S. PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - NA g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - NA g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - NA g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.380A>G r.(?) p.(Asn127Ser) Unknown - NA g.47637246A>G g.47410107A>G N127S - MSH2_000031 {GR:148} PubMed: Gammie 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G g.47410107A>G MSH2(NM_000251.2):c.380A>G (p.N127S, p.(Asn127Ser), p.Asn127Ser), MSH2(NM_000251.3):c.380A>G (p.N127S) - MSH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380A>G r.(?) p.(Asn127Ser) Unknown - benign g.47637246A>G - MSH2(NM_000251.2):c.380A>G (p.N127S, p.(Asn127Ser), p.Asn127Ser), MSH2(NM_000251.3):c.380A>G (p.N127S) - MSH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.380A>G r.(?) p.(Asn127Ser) Parent #1 - NA g.47637246A>G - chr2_47637246_A_G - MSH2_000031 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 - 33/60466 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 - 33 BRIDGES consortium
?/. - c.380A>G r.(?) p.(Asn127Ser) Parent #1 - NA g.47637246A>G - chr2_47637246_A_G - MSH2_000031 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 - 32/53461 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 - 32 BRIDGES consortium
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