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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

34 entries on 1 page. Showing entries 1 - 34.
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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.3202C>T r.(?) p.(Arg1068Ter) Unknown - pathogenic g.48030588C>T g.47803449C>T MSH6(NM_000179.2):c.3202C>T (p.R1068*, p.(Arg1068*)), MSH6(NM_000179.3):c.3202C>T (p.R1068*) - MSH6_000487 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3202C>T r.(?) p.(Arg1068Ter) Unknown - pathogenic g.48030588C>T g.47803449C>T MSH6(NM_000179.2):c.3202C>T (p.R1068*, p.(Arg1068*)), MSH6(NM_000179.3):c.3202C>T (p.R1068*) - MSH6_000487 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3202C>T r.(?) p.(Arg1068Ter) Unknown - pathogenic g.48030588C>T g.47803449C>T MSH6(NM_000179.2):c.3202C>T (p.R1068*, p.(Arg1068*)), MSH6(NM_000179.3):c.3202C>T (p.R1068*) - MSH6_000487 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3202C>T r.(?) p.(Arg1068Ter) Unknown - pathogenic g.48030588C>T g.47803449C>T MSH6(NM_000179.2):c.3202C>T (p.R1068*, p.(Arg1068*)), MSH6(NM_000179.3):c.3202C>T (p.R1068*) - MSH6_000487 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 Insight class: 5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - PubMed: Plaschke 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - PubMed: Plaschke 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T 3202C>T - MSH6_000487 1x 58 y synchr. CCCoecum u. re. Flexur, pT3, N0, 60J Endometrium-CA, MSI2+high Endometrium-CA, MSI3+ high both CC, IHC loss of MSH6 in 3 tumors, in EC also loss of MSH2, Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T Exon 5 3202C>T p.Arg1068* - MSH6_000487 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T Exon 5 3202C>T p.Arg1068* - MSH6_000487 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T MSH6:3202C>T - MSH6_000487 - Ian Frayling - Cardiff - - Germline - - - - - DNA SEQ - - ? - - segregation LR 0.7885; - - - - - - - - 1 INSiGHT group
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T 3202C>T - MSH6_000487 Number of affected carriers / family:3 Gabriel Capell?í - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - - - - - - - 1 INSiGHT group
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T 3202C>T - MSH6_000487 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - Sigm38, MSI H, ihc mlh1+,msh2+, msh6+, pms2+ - - - - - - - - 1 INSiGHT group
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T 3202C>T - MSH6_000487 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - no tumors reported - - - - - - - - 1 INSiGHT group
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T 3202C>T - MSH6_000487 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - colon40 - - - - - - - - 1 INSiGHT group
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - CRC - - - - - - - - - - - 1 James Whitworth
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Gabriel Capella
+?/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - likely pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - - - - Germline ? - - - - DNA SEQ - - ?, cancer, bladder - - father 65 y colon-ca, 68 y small intestine-ca, 70 y gastric-ca F - Germany - - - - - 1 Elke Holinski-Feder
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. - c.3202C>T r.(?) p.Arg1068* Unknown - pathogenic g.48030588C>T g.47803449C>T disruptive variant - MSH6_000487 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3202C>T r.(?) p.Arg1068* Unknown - pathogenic g.48030588C>T g.47803449C>T disruptive variant - MSH6_000487 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T disruptive variant - MSH6_000487 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - M - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T 3202C>T;p.Arg1068X - MSH6_000487 - PubMed: Thodi 2010 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Thodi 2010 - - - Greece - - - - - 1 InSiGHT - John-Paul Plazzer
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 ICCON data, Prince of Wales Hospital, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.3202C>T r.(?) p.(Arg1068*) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3202C>T r.(?) p.(Arg1068*) Unknown ACMG pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 InSiGHT class 5 - - rs63749843 Germline ? - - - - DNA SEQ-NG-I - - cancer, rectal, cancer, endometrial 111046 - - F ? Finland - - - - - 1 Andreas Laner
+/. - c.3202C>T r.(?) p.(Arg1068*) Parent #1 - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs63749843 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.3202C>T r.(?) p.(Arg1068*) Parent #1 - NA g.48030588C>T - chr2_48030588_C_T - MSH6_000487 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.3202C>T r.(?) p.(Arg1068*) Parent #1 - NA g.48030588C>T - chr2_48030588_C_T - MSH6_000487 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.3202C>T r.(?) p.(Arg1068Ter) Unknown - pathogenic g.48030588C>T g.47803449C>T - - MSH6_000487 - PubMed: Jiang 2022 - - Germline/De novo (untested) - 1/486 cases - - - DNA SEQ-NG - 81-gene panel cancer, colon 374077 PubMed: Jiang 2022 analysis 486 colorectal cancer patients M - China - - - - - 1 Johan den Dunnen
+/. - c.3202C>T r.(?) p.(Arg1068Ter) Unknown - pathogenic g.48030588C>T - MSH6(NM_000179.2):c.3202C>T (p.R1068*, p.(Arg1068*)), MSH6(NM_000179.3):c.3202C>T (p.R1068*) - MSH6_000487 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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