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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

48 entries on 1 page. Showing entries 1 - 48.
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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.3261dup r.(?) p.(Phe1088LeufsTer5) Unknown - pathogenic g.48030647dup g.47803508dup MSH6(NM_000179.2):c.3261dup (p.(Phe1088Leufs*5)), MSH6(NM_000179.2):c.3261dupC (p.F1088Lfs*5), MSH6(NM_000179.2):c.3261dupC (p.Phe1088Leufs*5), MSH... - MSH6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 Insight class: 5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup 1087insC - MSH6_000077 - PubMed: Wagner 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wagner,A. 2002 CAPP2 study ? - United States - - - - - 1 Juul Wijnen
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Parent #1 - pathogenic g.48030647dup g.47803508dup insC at 3261 - MSH6_000077 - Bennett (unpublished) - - Germline - - - - - DNA SEQ - - ? - Bennett (unpublished) - ? - Australia - - - - - 1 INSiGHT group
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Parent #1 - pathogenic g.48030647dup g.47803508dup insT at 3262 - MSH6_000077 - PubMed: Akiyama 1997 - - Germline - - - - - DNA SEQ - - ? - PubMed: Akiyama 1997 - ? - Japan - - - - - 1 INSiGHT group
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Shin 1999,PubMed: Shin 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Wagner 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Shin 1999,PubMed: Shin 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Plaschke 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Ollikainen 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Barnetson 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Kets 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Overbeek 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup 3261_3262insC - MSH6_000077 - - - - Germline - - - - - DNA SEQ - - CRC - - 1 sister endometrial ca (54y); 1 sister breast ca (58y); 1 brother 2 polyps ; InSiGHT LOVDv2 ID:1011250; M - Kuwait Arab - - - - 1 Makia Marafie
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Gabriel Capella
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 Found in 1 family PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - WGS, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 Submitted by ICCon – South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 Submitted by ICCon – South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup 3261dupC - MSH6_000077 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup 3261dupC - MSH6_000077 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup Frameshift - MSH6_000077 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - CRC - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - CRC - PubMed: Baert-Desurmont 2018 - M - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup disruptive variant - MSH6_000077 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Parent #1 - NA g.48030647dup g.47803508dup - - MSH6_000077 These mutations in the exon 5 C(8) track were found in the MIN-positive colon cancer cell line HCT116 when the mutated MLH1 gene was corrected. PubMed: Weiss 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - NA g.48030647dup g.47803508dup - - MSH6_000077 Identified in KCL22 cell line PubMed: Hosoya 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - NA g.48030647dup g.47803508dup - - MSH6_000077 Identidied in somatic cell line PubMed: Bonk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown ACMG pathogenic g.48030647dup g.47803508dup - - MSH6_000077 ACMG grading: PP5,PM2,PP4,PVS1; reported in Akiyama 1997. Cancer Rs 57: 3920; Rosty 2014. Fam Cancer 13: 573; Lavoine 2015. J Med Genet 52: 770 - - rs748452299 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown ACMG pathogenic g.48030647dup g.47803508dup - - MSH6_000077 ACMG grading: PVS1,PM2,PP4 CRC at age 71y (loss MSH6, MSI-H), sebaceous gland carzinoma at age 72y (loss MSH6, MSI-H); Akiyama et al. 1997. Cancer Rs 57: 3920; Rosty et al. 2014. Fam Cancer 13: 573; Lavoine et al. 2015. J Med Genet 52: 770 - - rs748452299 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.3261dup r.(?) p.(Phe1088LeufsTer5) Unknown - pathogenic g.48030647dup - MSH6(NM_000179.2):c.3261dup (p.(Phe1088Leufs*5)), MSH6(NM_000179.2):c.3261dupC (p.F1088Lfs*5), MSH6(NM_000179.2):c.3261dupC (p.Phe1088Leufs*5), MSH... - MSH6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.3261dup r.(?) p.(Phe1088Leufs*5) Unknown - pathogenic g.48030647dup g.47803508dup - - MSH6_000077 - - - - Germline/De novo (untested) - - - - - DNA DGGE, SEQ - year test performed: 2009 ? - - - F - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
+/. - c.3261dup r.(?) p.(Phe1088LeufsTer5) Unknown - pathogenic g.48030647dup - - - MSH6_000077 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3261dup r.(?) p.(Phe1088LeufsTer5) Unknown - pathogenic g.48030647dup - - - MSH6_000077 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3261dup r.(?) p.(Phe1088LeufsTer5) Unknown - pathogenic g.48030647dup - MSH6(NM_000179.2):c.3261dup (p.(Phe1088Leufs*5)), MSH6(NM_000179.2):c.3261dupC (p.F1088Lfs*5), MSH6(NM_000179.2):c.3261dupC (p.Phe1088Leufs*5), MSH... - MSH6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3261dup r.(?) p.(Phe1088LeufsTer5) Unknown - pathogenic g.48030647dup - MSH6(NM_000179.2):c.3261dup (p.(Phe1088Leufs*5)), MSH6(NM_000179.2):c.3261dupC (p.F1088Lfs*5), MSH6(NM_000179.2):c.3261dupC (p.Phe1088Leufs*5), MSH... - MSH6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3261dup r.(?) p.(Phe1088LeufsTer5) Unknown - pathogenic g.48030647dup - - - MSH6_000077 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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