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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

38 entries on 1 page. Showing entries 1 - 38.
Legend   How to query  

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     
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.? p.? Parent #1 - pathogenic g.(47643569_47656880)_(47657081_47672686)del - deletion exon 7 - MSH2_000332 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - - - MSH2_000332 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - del ex07 - MSH2_000332 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - - - MSH2_000332 Submitted by ICCon South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - del ex07 - MSH2_000332 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - del ex07 - MSH2_000332 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - del ex07 - MSH2_000332 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - del ex07 - MSH2_000332 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7, ~14 kb - MSH2_000332 - PubMed: van der Klift 2005 - - Germline - - - - - DNA Southern - - ? - PubMed: van der Klift 2005 - ? - Netherlands - - - - - 1 Juul Wijnen
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - del ex 7 - MSH2_000332 - - - - Germline - - - - - DNA Southern, MLPA - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - del ex07 - MSH2_000332 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7, ~14 kb - MSH2_000332 - PubMed: van der Klift 2005 - - Germline - - - - - DNA Southern, MLPA - - ? - PubMed: van der Klift 2005 - ? - Netherlands - - - - - 1 Carli Tops
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Parent #1 - pathogenic g.(47643569_47656880)_(47657081_47672686)del - - - MSH2_000332 - PubMed: van der Klift 2005 - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 INSiGHT group
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Mangold 2007 - - Germline - - - - - DNA ? - - MRTES - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Grabowski 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Charbonnier 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Baudhuin 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Sanchez de Abajo 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Pistorius 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Di Fiore 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Pistorius 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Sheng 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Zhu 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Gille 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Pastrello 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: De Lellis 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Vaccaro 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion of Exon 7 - MSH2_000332 - PubMed: Julie 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.spl p.? Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - 1077-?_1276+?del (Del ex07) / p.Arg359_Gly426>ArgfsX17 - MSH2_000332 Maternal Inferred José Luis Soto - - Germline - - - - - DNA MLPA - - cancer, endometrial - - - F - - - - - - - 1 INSiGHT group
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - 1077-?_1276+?del - MSH2_000332 6x index cases, 5 with IHC loss of MSH2 + MSH6, MLH1 + pMS2 positive, MSI-H, one Amsterdam1-pos. family history, age of onset for CC 33y -38y-39y -41y-46y-47y-47y-57y, 5x synchr. CC Elke Holinski-Feder and Monika Morak - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.spl p.? Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Exon 7 1077-?_1276+?del p.Leu360Lysfs*16 (reported as p.Leu360_Gly426>Lysfs*16) - MSH2_000332 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.spl p.? Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Exon 7 1077-?_1276+?del p.Leu360Lysfs*16 (reported as p.Leu360_Gly426>Lysfs*16) - MSH2_000332 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.spl p.? Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Exon 7 1077-?_1276+?del p.Leu360Lysfs*16 (reported as p.Leu360_Gly426>Lysfs*16) - MSH2_000332 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - 1077-?_1276+?del - MSH2_000332 WT MaxEntScan score: not determined; Variant MaxEntScan score: not determined; Difference in MaxEntScan score between variant and WT (%): not determined InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina;Uruguay;Brazil - - - - - 3 Mev Dominguez Valentin
+/. - c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - 1077-?_1276+?del - MSH2_000332 - PubMed: Zumstein 2016 - - Germline - - - - - DNA ? - - cancer, bladder, cancer, kidney, cancer, prostate, CRC - PubMed: Zumstein 2016 1 sister (endometrial cancer, 40 y; brain tumour, 49; y), 1 paternal aunt (endometrial cancer, 40 y); Healthy: 2 children, 1 nephew, 4 grandchildren M - Switzerland - - - - - 1 InSiGHT - John-Paul Plazzer
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion exon 7 - MSH2_000332 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. 6i_7i c.(1076+1_1077-1)_(1276+1_1277-1)del r.(?) p.(Leu360Lysfs*16) Unknown - pathogenic g.(47643569_47656880)_(47657081_47672686)del - Deletion exon 7 - MSH2_000332 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.