All variants in the MSH2 gene


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-118T>C r.(?) p.(=) - benign g.47630213T>C g.47403074T>C - - MSH2_000892 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.-118T>C r.(?) p.(=) - benign g.47630213T>C g.47403074T>C - - MSH2_000892 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-118T>C r.(?) p.(=) - benign g.47630213T>C g.47403074T>C - - MSH2_000892 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-118T>C r.(?) p.(=) - benign g.47630213T>C g.47403074T>C - - MSH2_000892 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-118T>C r.(?) p.(=) - benign g.47630213T>C g.47403074T>C - - MSH2_000892 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-118T>C r.(?) p.(=) - benign g.47630213T>C g.47403074T>C - - MSH2_000892 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/- 1 c.-118T>C r.(?) p.(=) InSiGHT benign g.47630213T>C g.47403074T>C - - MSH2_000892 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C -118 C>T. - MSH2_000892 - PubMed: Chen 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C -118 C>T. - MSH2_000892 - PubMed: Chen 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C - - MSH2_000892 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C - - MSH2_000892 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C - - MSH2_000892 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C - - MSH2_000892 - PubMed: Iwahashi 1998 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C -118 C>T. - MSH2_000892 - PubMed: Lee 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C Authors describe this variant as -118C>T. - MSH2_000892 - PubMed: Yap 2009 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C - - MSH2_000892 Authors describe this variant as being associated with a strong family history of CRC in Ontario patients. PubMed: Mrkonjic 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C -118 C>T. - MSH2_000892 - PubMed: Chen 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C - - MSH2_000892 - PubMed: Shin 2002 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C - - MSH2_000892 - PubMed: Jung 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C 1-118T>C - MSH2_000892 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.-118T>C r.(?) p.(=) - VUS g.47630213T>C g.47403074T>C -118T>C - MSH2_000892 - - - - Germline - - - 0 - Thomas Hansen
-/. - c.-118T>C r.(?) p.(=) - benign g.47630213T>C g.47403074T>C - - MSH2_000892 - - - - Germline - - - 0 - Carlos Vaccaro
-/. - c.-118T>C r.(?) p.(=) - benign g.47630213T>C g.47403074T>C - - MSH2_000892 - - - - Germline - - - 0 - Carlos Vaccaro
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