Full data view for gene MSH6


MSH6 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000179.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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     
+/+ 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 Insight class: 5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Parent #2 - pathogenic g.48030647del g.47803508del - - MSH6_000037 - PubMed: Auclair 2007,PubMed: Bonadona 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - PubMed: Wijnen 1999,PubMed: Hendriks 2004,PubMed: Sjursen 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen,J. 1999, PubMed: Hendriks, Y.M. 2004 - ? - Norway - - - - - 1 Juul Wijnen
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - PubMed: Steinke 2008 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Parent #1 - pathogenic g.48030647del g.47803508del 3261delC - MSH6_000037 - Suchy (unpublished) 2006 - - Germline - - - - - DNA SEQ - - ? - Suchy (unpublished) 2006 - ? - Poland - - - - - 1 INSiGHT group
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - PubMed: Plaschke 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - PubMed: Hampel 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del 3341delC - MSH6_000037 - PubMed: Jenkins 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - PubMed: Overbeek 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - PubMed: Devlin 2008 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del Submitter described this as p.fsX. - MSH6_000037 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del Submitter described this as p.fsX. - MSH6_000037 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del 3261del - MSH6_000037 1x 56 y RektumCa, MSI-H, IHC isolated loss of MSH6, Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del 3261del - MSH6_000037 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del 3261del - MSH6_000037 No. of Families:5 Rodney Scott - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del Exon 5 3261delC p.Phe1088Serfs*2 - MSH6_000037 - Desiree du Sart - - Germline - - - - - DNA SEQ - - cancer - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del 3261delC - MSH6_000037 N?? affected carriers / family:2 Gabriel Capell?í - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del 3261delC - MSH6_000037 N?? affected carriers / family:3 Gabriel Capell?í - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Gabriel Capella
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 Submitted by ICCon – South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del MLH1:2146G>A + MSH6:3261del - MSH6_000037 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - cancer, endometrial - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016826; F - - - - - - - 1 INSiGHT group
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del 3261delC - MSH6_000037 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. - c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del Frameshift - MSH6_000037 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del Frameshift - MSH6_000037 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del Frameshift - MSH6_000037 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.3261del r.(?) p.Phe1088Serfs*2 Unknown - pathogenic g.48030647del g.47803508del disruptive variant - MSH6_000037 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del disruptive variant - MSH6_000037 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - NA g.48030647del g.47803508del - - MSH6_000037 Identified in Jurkat and KCL22 cell line PubMed: Hosoya 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - NA g.48030647del g.47803508del - - MSH6_000037 Identified in T-cell leukemic Jurkat cell line PubMed: Levati 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - NA g.48030647del g.47803508del - - MSH6_000037 Identified in somatic cell line PubMed: Bonk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 ICCON data, Prince of Wales Hospital, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 Somatic MMR on Manchester panel detected significant LOH across multiple MLH1 SNV markers as well as the class 3 MLH1 variant c.1595G>A p.(Gly532Asp, that was detected in 64% reads consistent with it being retained in the pathology sample. A MSH6 pathogenic variant c.3261deIC p.(Phe1088SerfsTer2) was identified in 25% of sequence reads, however no evidence for a second MSH6 pathogenic variant or LOH for MSH6 markers. - - - Somatic - - - - - DNA ? - - CRC - - Non Amsterdam - - United Kingdom (Great Britain) - - - - - 1 Gail Norbury
+/+ - c.3261del r.(?) p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del c.3261delC - MSH6_000037 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - cancer, endometrial - - - F - United Kingdom (Great Britain) - - - - - 1 InSiGHT - John-Paul Plazzer
+/. 5 c.3261del r.0? p.(Phe1088Serfs*2) Unknown - pathogenic g.48030647del g.47803508del - - MSH6_000037 - - - - Somatic - - - - - DNA SEQ-NG - - cancer, colon - - - F no France - - - - - 1 Florence Coulet
+/. - c.3261del r.(?) p.(Phe1088SerfsTer2) Unknown - pathogenic g.48030647del - MSH6(NM_000179.2):c.3261delC (p.Phe1088Serfs*2), MSH6(NM_000179.3):c.3261delC (p.F1088Sfs*2) - MSH6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3261del r.(?) p.(Phe1088SerfsTer2) Unknown - pathogenic g.48030647del - MSH6(NM_000179.2):c.3261delC (p.Phe1088Serfs*2), MSH6(NM_000179.3):c.3261delC (p.F1088Sfs*2) - MSH6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3261del r.(?) p.(Phe1088SerfsTer2) Unknown - pathogenic g.48030647del - MSH6(NM_000179.2):c.3261delC (p.Phe1088Serfs*2), MSH6(NM_000179.3):c.3261delC (p.F1088Sfs*2) - MSH6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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