All transcript variants in gene MSH6


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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.

91 entries on 1 page. Showing entries 1 - 91.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - MSH6(NM_000179.2):c.116G>A (p.G39E) - MSH6_000915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - MSH6(NM_000179.2):c.116G>A (p.G39E) - MSH6_000915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - MSH6(NM_000179.2):c.116G>A (p.G39E) - MSH6_000915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - MSH6(NM_000179.2):c.116G>A (p.G39E) - MSH6_000915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - MSH6(NM_000179.2):c.116G>A (p.G39E) - MSH6_000915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Ruth Armstrong
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Ruth Armstrong
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Ruth Armstrong
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Hirata 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Hirata 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 no significant association with breast cancer risk PubMed: Smith 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 no significant association with breast cancer risk PubMed: Smith 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - G>A at 116 - MSH6_000915 - PubMed: Kolodner 1999 - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - G>A at 116 - MSH6_000915 - PubMed: Plaschke 2000 - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - G>A at 116 - MSH6_000915 - PubMed: Nicolaides 1996 - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - p.Gly39Glu - MSH6_000915 - PubMed: Landi 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - p.Gly39Glu - MSH6_000915 - PubMed: Berndt 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - p.Gly39Glu - MSH6_000915 polymorphism showing higher risk for malignant urinary bladder neoplasms than non-carriers PubMed: Sanyal 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - p.Gly39Glu - MSH6_000915 identified in a glioblastoma multiforme tumour sample PubMed: Maxwell 2008 - - Somatic - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Verma 1999 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Charames 2000 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Parc 2000 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Peterlongo 2003 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Kim 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Kim 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Vahteristo 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Woods 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Hegde 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Sanchez de Abajo 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Yu 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Hirata 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 associated with colon cancer risk in men PubMed: Campbell 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 no significant association with breast cancer risk PubMed: Smith 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Perez-Cabornero 2009 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Felipe Silva
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - 116G>A - MSH6_000915 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - 116G>A - MSH6_000915 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - 116G>A - MSH6_000915 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - Het 116G>A (p.G39E). - MSH6_000915 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - 116G>A - MSH6_000915 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - 3150_3162dup hetero; 116G>A hetero; 2633T>C hetero - MSH6_000915 - Gabriel Capell?í and Ignacio Blanco - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.116g>a p.Gly39Glu g.48010488G>A - p.[Gly39Glu]+[Gly39Glu] - MSH6_000915 identified in a glioblastoma multiforme tumour sample PubMed: Maxwell 2008 - - Somatic - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.116g>a p.Gly39Glu g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Felipe Silva
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - Dx bowel ca 40yrs, IHC absent MSH6. Austin clinicHet for seq variants: 116G>A, 186C>A, 276A>G, 540T>C, 3438+14A>T. - MSH6_000915 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - p.Gly39Glu - MSH6_000915 - PubMed: Zidan 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 MSH6 variants: c.116G>A (p.G39E) het.MSH2 seq reported 10.10.07. Seq variants: c.211+9C>G. c.1661+6T>C and c.2006-6T>C (HOM). NOT prev reported and clinical sig uncertain c.2634+12T>C (Het).H1/H2 MLPA rep 20/12/08 Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu) g.48010488G>A - MSH2 seq reported 23/01/09. mlpa reported 23/01/09.Hom:211+9C>G, 1661+12G>A, het 2006-6T>CMSH6 polys:116G>A, 3306T>A - MSH6_000915 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - - - MSH6_000915 - PubMed: Thodi 2010 - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A g.47783349G>A - - MSH6_000915 - - - - Germline - - - 0 - Carlos Vaccaro
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A g.47783349G>A - - MSH6_000915 - - - - Germline - - - 0 - Maximiliano Zeballos
-/. 1 c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A g.47783349G>A - - MSH6_000915 - - - - Germline - - - 0 - Maximiliano Zeballos
Legend