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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

37 entries on 1 page. Showing entries 1 - 37.
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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.1077-10T>C r.(=) p.(=) Unknown - benign g.47656871T>C g.47429732T>C MSH2(NM_000251.1):c.1077-10T>C, MSH2(NM_000251.2):c.1077-10T>C (p.(=)), MSH2(NM_000251.3):c.1077-10T>C - MSH2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-10T>C r.(=) p.(=) Unknown - benign g.47656871T>C g.47429732T>C MSH2(NM_000251.1):c.1077-10T>C, MSH2(NM_000251.2):c.1077-10T>C (p.(=)), MSH2(NM_000251.3):c.1077-10T>C - MSH2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-10T>C r.(=) p.(=) Unknown - benign g.47656871T>C g.47429732T>C MSH2(NM_000251.1):c.1077-10T>C, MSH2(NM_000251.2):c.1077-10T>C (p.(=)), MSH2(NM_000251.3):c.1077-10T>C - MSH2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-10T>C r.(=) p.(=) Unknown - benign g.47656871T>C g.47429732T>C MSH2(NM_000251.1):c.1077-10T>C, MSH2(NM_000251.2):c.1077-10T>C (p.(=)), MSH2(NM_000251.3):c.1077-10T>C - MSH2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-10T>C r.(=) p.(=) Unknown - benign g.47656871T>C g.47429732T>C MSH2(NM_000251.1):c.1077-10T>C, MSH2(NM_000251.2):c.1077-10T>C (p.(=)), MSH2(NM_000251.3):c.1077-10T>C - MSH2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-10T>C r.(=) p.(=) Unknown - benign g.47656871T>C g.47429732T>C MSH2(NM_000251.1):c.1077-10T>C, MSH2(NM_000251.2):c.1077-10T>C (p.(=)), MSH2(NM_000251.3):c.1077-10T>C - MSH2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.1077-10T>C r.(?) p.(=) Parent #1 - benign g.47656871T>C g.47429732T>C - - MSH2_000297 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 6i c.1077-10T>C r.spl? p.(=) Unknown InSiGHT benign g.47656871T>C g.47429732T>C - - MSH2_000297 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - United Kingdom (Great Britain) - - - - - 1 Juul Wijnen
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - Germany - - - - - 1 Juul Wijnen
-/. 6i c.1077-10T>C r.spl? p.(=) Unknown - benign g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 6i c.1077-10T>C r.spl? p.(=) Unknown - benign g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 6i c.1077-10T>C r.spl? p.(=) Unknown - benign g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 6i c.1077-10T>C r.spl? p.(=) Unknown - benign g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 6i c.1077-10T>C r.spl? p.(=) Parent #1 - VUS g.47656871T>C g.47429732T>C g.26608, it is g.26609 (g.26608 is an A). - MSH2_000297 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Parent #2 - VUS g.47656871T>C g.47429732T>C g.26608, it is g.26609 (g.26608 is an A). - MSH2_000297 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - PubMed: Wagner 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wagner,A. 2002 CAPP2 study ? - United States - - - - - 1 Juul Wijnen
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - United Kingdom (Great Britain) - - - - - 1 Juul Wijnen
-/. 6i c.1077-10T>C r.spl? p.(=) Unknown - benign g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 6i c.1077-10T>C r.spl? p.(=) Parent #1 - VUS g.47656871T>C g.47429732T>C -10 of 5'exon 7 T>C - MSH2_000297 - Coelho et al., - - Germline - ? - - - DNA SEQ - - ? - - - ? - Portugal - - - - - 1 INSiGHT group
?/. 6i c.1077-10T>C r.spl? p.(=) Parent #1 - VUS g.47656871T>C g.47429732T>C t -> c at 1077-10 - MSH2_000297 - PubMed: Borresen 1995 - - Germline - 0.05 - - - DNA SEQ - - ? - - - ? - Norway - - - - - 1 INSiGHT group
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 Aberrant Splicing? PubMed: Swensen 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - PubMed: Desai 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - PubMed: Cederquist 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - PubMed: Woods 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C g.26608, it is g.26609 (g.26608 is an A). - MSH2_000297 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 6i c.1077-10T>C r.spl? p.(=) Unknown - benign g.47656871T>C g.47429732T>C - - MSH2_000297 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - PubMed: Chen-Shtoyerman 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - PubMed: Jung 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C 1076-10T>C - MSH2_000297 - PubMed: Holinski-Feder 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C 1077-10T>C - MSH2_000297 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C - - MSH2_000297 - PubMed: Hegde 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C MSH2 negative seq and mlpa 08/08/09.1077-10T>C, 1661+12G>A, 2006-6T>C - MSH2_000297 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 6i c.1077-10T>C r.spl? p.(=) Unknown - VUS g.47656871T>C g.47429732T>C 1777C>T hetero; 2006-6T>C hetero; 1077-10T>C hetero - MSH2_000297 - Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - F - - - - - - - 1 INSiGHT group
-/. 6i c.1077-10T>C r.spl? p.(=) Unknown - benign g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. - c.1077-10T>C r.(=) p.(=) Unknown - benign g.47656871T>C g.47429732T>C MSH2(NM_000251.1):c.1077-10T>C, MSH2(NM_000251.2):c.1077-10T>C (p.(=)), MSH2(NM_000251.3):c.1077-10T>C - MSH2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-10T>C r.(?) p.(=) Unknown - benign g.47656871T>C g.47429732T>C - - MSH2_000297 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
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