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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

11 entries on 1 page. Showing entries 1 - 11.
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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.212-1G>A r.spl? p.? Unknown - pathogenic g.47635539G>A g.47408400G>A MSH2(NM_000251.2):c.212-1G>A - MSH2_001110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1i c.212-1G>A r.spl p.? Unknown InSiGHT pathogenic g.47635539G>A g.47408400G>A - - MSH2_001110 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.212-1G>A r.spl p.? Unknown - pathogenic g.47635539G>A g.47408400G>A - - MSH2_001110 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Gabriel Capella
+/. 1i c.212-1G>A r.spl p.? Unknown - pathogenic g.47635539G>A g.47408400G>A - - MSH2_001110 - PubMed: Overbeek 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1i c.212-1G>A r.spl p.? Unknown - pathogenic g.47635539G>A g.47408400G>A - - MSH2_001110 Splice acceptor site PubMed: Ramsoekh 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1i c.212-1G>A r.[=,212-1G>A] p.Gly71Glufs*13 Unknown - pathogenic g.47635539G>A g.47408400G>A - - MSH2_001110 - Genuardi (unpublished) - - Germline - - - 0 - DNA SEQ - - HNPCC - - - F - Italy white - 0 pedigree - 1 Maurizio Genuardi
+/. 1i c.212-1G>A r.spl p.? Unknown - pathogenic g.47635539G>A g.47408400G>A - - MSH2_001110 - PubMed: De Lellis 2013 - - Germline - - - 0 - DNA DHPLC, SEQ - - HNPCC - - - - - Italy - - 0 - - 1 Laura De Lellis
+/. 1i c.212-1G>A r.spl p.? Unknown - pathogenic g.47635539G>A g.47408400G>A Exon 2 212-1G>A RNA required - MSH2_001110 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/. 1i c.212-1G>A r.spl p.? Unknown - pathogenic g.47635539G>A g.47408400G>A Exon 2 212-1G>T RNA required - MSH2_001110 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/. 1i c.212-1G>A r.spl p.? Unknown - pathogenic g.47635539G>A g.47408400G>A MSH2:212-1G>A - MSH2_001110 - Adrienne Sexton, Kirsty Mann - - Germline - - - 0 - DNA SEQ - - ? - - Proband dx endometrial ca 56y, dx CRC 67y. Sib dx CRC 34y. Sib dx adenomas 51y (polyps IHC normal; blood negative for MSH2 UV). Parent dx CRC 42y - - - - - 0 - - 1 INSiGHT group
+/+ 1i c.212-1G>A r.spl? p.? Unknown - pathogenic g.47635539G>A g.47408400G>A - - MSH2_001110 - - - - Germline/De novo (untested) - Not on gnomAD - 0 - DNA SEQ - year test performed: 2017 Adenoma sebaceum - - 2 x sebaceous adenomas, father CRC; F - (United Kingdom (Great Britain)) - - 0 - - 1 Treena Cranston
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