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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

35 entries on 1 page. Showing entries 1 - 35.
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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.1737A>G r.(?) p.(Lys579=) Unknown - likely benign g.47698179A>G g.47471040A>G MSH2(NM_000251.2):c.1737A>G (p.K579=, p.(Lys579=), p.Lys579=, p.=), MSH2(NM_000251.3):c.1737A>G (p.K579=) - MSH2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1737A>G r.(?) p.(Lys579=) Parent #1 - benign g.47698179A>G g.47471040A>G - - MSH2_000218 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/-? 11 c.1737A>G r.1737a>g p.= Unknown - likely benign g.47698179A>G g.47471040A>G - - MSH2_000218 Insight class: 2 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 11 c.1737A>G r.1737a>g p.= Parent #1 - likely benign g.47698179A>G g.47471040A>G - - MSH2_000218 Functional analysis using the pCAS ex vivo splicing assay and RNA analysis demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1737A>G r.1737a>g p.= Unknown - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 same patient also c.1387-8G>T; no other relatives or RNA available Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ - - CRC - Netherlands:Leiden - M - Netherlands - - - - - 1 Carli Tops
?/. 11 c.1737A>G r.1737a>g p.= Unknown - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 - PubMed: Sanchez de Abajo 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1737A>G r.1737a>g p.= Unknown - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 - PubMed: Urso 2008; PubMed: Pastrello 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1737A>G r.1737a>g p.= Parent #1 - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 - PubMed: Wijnen 1995 - - Germline - 0.01 - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 INSiGHT group
-?/. 11 c.1737A>G r.1737a>g p.= Unknown - likely benign g.47698179A>G g.47471040A>G K579K - MSH2_000218 {GR:385} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-?/. 11 c.1737A>G r.1737a>g p.= Unknown - likely benign g.47698179A>G g.47471040A>G K579K - MSH2_000218 {GR:385} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-?/. 11 c.1737A>G r.1737a>g p.= Unknown - likely benign g.47698179A>G g.47471040A>G K579K - MSH2_000218 {GR:385} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-?/. 11 c.1737A>G r.1737a>g p.= Unknown - likely benign g.47698179A>G g.47471040A>G K579K - MSH2_000218 {GR:385} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-?/. 11 c.1737A>G r.1737a>g p.= Unknown - likely benign g.47698179A>G g.47471040A>G K579K - MSH2_000218 {GR:385} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-?/. 11 c.1737A>G r.1737a>g p.= Unknown - likely benign g.47698179A>G g.47471040A>G K579K - MSH2_000218 {GR:385} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 11 c.1737A>G r.1737a>g p.= Unknown - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 - PubMed: Curia 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1737A>G r.1737a>g p.= Unknown - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 - PubMed: Desai 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1737A>G r.1737a>g p.= Unknown - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 - PubMed: Scartozzi 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1737A>G r.1737a>g p.= Unknown - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 - PubMed: Caldes 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1737A>G r.1737a>g p.= Unknown - VUS g.47698179A>G g.47471040A>G - - MSH2_000218 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1737A>G r.(?) p.(=) Unknown - VUS g.47698179A>G g.47471040A>G 1737A>G - MSH2_000218 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - 3 families, segregation LR 0.11 [2 fams [Ontario CCFR], [Aus CCFR]; Total segregation LR 0.06 ? - - - - - - - 1 INSiGHT group
?/. 11 c.1737A>G r.(?) p.(=) Unknown - VUS g.47698179A>G g.47471040A>G 1737A>G - MSH2_000218 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - 3 families, segregation LR 0.11 [2 fams [Ontario CCFR], [Aus CCFR]; Total segregation LR 0.06 ? - - - - - - - 1 INSiGHT group
?/. 11 c.1737A>G r.(?) p.(=) Unknown - VUS g.47698179A>G g.47471040A>G 1737A>G - MSH2_000218 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
-?/. 11 c.1737A>G r.(?) p.(=) Unknown - likely benign g.47698179A>G g.47471040A>G 1737A>G - MSH2_000218 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-?/. 11 c.1737A>G r.(?) p.(=) Unknown - likely benign g.47698179A>G g.47471040A>G 1737A>G - MSH2_000218 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-?/. 11 c.1737A>G r.(?) p.(=) Unknown - likely benign g.47698179A>G g.47471040A>G 1737A>G - MSH2_000218 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-?/. - c.1737A>G r.(?) p.(=) Unknown - likely benign g.47698179A>G g.47471040A>G 1387-8G>T+ 1737A>G - MSH2_000218 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-?/. - c.1737A>G r.(?) p.(=) Unknown - likely benign g.47698179A>G g.47471040A>G 1387-8G>T+ 1737A>G - MSH2_000218 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-?/. 11 c.1737A>G r.1737a>g p.= Unknown - NA g.47698179A>G g.47471040A>G K579K - MSH2_000218 {GR:385} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 11 c.1737A>G r.1737a>g p.= Unknown - NA g.47698179A>G g.47471040A>G K579K - MSH2_000218 {GR:385} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1737A>G r.(?) p.(Lys579=) Unknown - likely benign g.47698179A>G g.47471040A>G MSH2(NM_000251.2):c.1737A>G (p.K579=, p.(Lys579=), p.Lys579=, p.=), MSH2(NM_000251.3):c.1737A>G (p.K579=) - MSH2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1737A>G r.(?) p.(Lys579=) Unknown - likely benign g.47698179A>G g.47471040A>G MSH2(NM_000251.2):c.1737A>G (p.K579=, p.(Lys579=), p.Lys579=, p.=), MSH2(NM_000251.3):c.1737A>G (p.K579=) - MSH2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1737A>G r.(?) p.(Lys579=) Unknown - likely benign g.47698179A>G g.47471040A>G MSH2(NM_000251.2):c.1737A>G (p.K579=, p.(Lys579=), p.Lys579=, p.=), MSH2(NM_000251.3):c.1737A>G (p.K579=) - MSH2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1737A>G r.(?) p.(Lys579=) Unknown - likely benign g.47698179A>G g.47471040A>G MSH2(NM_000251.2):c.1737A>G (p.K579=, p.(Lys579=), p.Lys579=, p.=), MSH2(NM_000251.3):c.1737A>G (p.K579=) - MSH2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1737A>G r.(?) p.(Lys579=) Unknown - benign g.47698179A>G - MSH2(NM_000251.2):c.1737A>G (p.K579=, p.(Lys579=), p.Lys579=, p.=), MSH2(NM_000251.3):c.1737A>G (p.K579=) - MSH2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1737A>G r.(?) p.(Lys579=) Unknown - likely benign g.47698179A>G - MSH2(NM_000251.2):c.1737A>G (p.K579=, p.(Lys579=), p.Lys579=, p.=), MSH2(NM_000251.3):c.1737A>G (p.K579=) - MSH2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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