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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

37 entries on 1 page. Showing entries 1 - 37.
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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.431G>T r.(?) p.(Ser144Ile) Unknown - likely benign g.48018236G>T g.47791097G>T MSH6(NM_000179.2):c.431G>T (p.(Ser144Ile), p.S144I), MSH6(NM_000179.3):c.431G>T (p.S144I) - MSH6_000923 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.431G>T r.(?) p.(Ser144Ile) Unknown - likely benign g.48018236G>T g.47791097G>T MSH6(NM_000179.2):c.431G>T (p.(Ser144Ile), p.S144I), MSH6(NM_000179.3):c.431G>T (p.S144I) - MSH6_000923 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.431G>T r.(?) p.(Ser144Ile) Unknown - benign g.48018236G>T g.47791097G>T MSH6(NM_000179.2):c.431G>T (p.(Ser144Ile), p.S144I), MSH6(NM_000179.3):c.431G>T (p.S144I) - MSH6_000923 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - benign g.48018236G>T g.47791097G>T - - MSH6_000923 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Perez-Cabornero 2009 - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - Spain - - - - - 1 Juul Wijnen
-/. 2 c.431G>T r.(?) p.(Ser144Ile) Parent #1 - benign g.48018236G>T g.47791097G>T G >T at 431 - MSH6_000923 - PubMed: Wu 1999 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wu 1999 - ? - Netherlands - - - - - 1 INSiGHT group
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Loukola 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Berends 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Kariola 2002 - - Germline - - - - - DNA ? - - ?, HNPCC (Lynch) - - page 1306 for details; missense mutation found in four separate families, each case different MSI or IHC situation; InSiGHT LOVDv2 ID:20775; ? - - - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Berends 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Woods 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 together with MUTYH mutation PubMed: Niessen 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - benign g.48018236G>T g.47791097G>T S144I - MSH6_000923 5/1059 controls PubMed: Barnetson 2008 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Nilbert 2008,PubMed: Okkels 2012 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Berends 2003 - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - - - - 1 Rolf Sijmons
-/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - benign g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Steinke 2008 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Perez-Cabornero 2009,PubMed: Perez-Cabornero 2013 - - Germline - - - - - DNA HD, SEQ - - ? - - - - - Spain - - - - - 1 Michael Woods
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - PubMed: Wu 1999 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - M - Brazil - - - - - 1 Felipe Silva
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T 431G>T - MSH6_000923 - Loic Le Marchand and Terrilea Burnett - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T 431G>T - MSH6_000923 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - segregation LR 0.6; - - - - - - - - 1 INSiGHT group
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T 431G>T - MSH6_000923 - Gabriel Capell?í and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - cancer, endometrial - - - F - - - - - - - 1 INSiGHT group
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T MSH2:367-?_645+?del + MSH2:815C>T + MSH6:431G>T - MSH6_000923 deletion exon 3 Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ, MLPA - - CRC - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016844; M - - - - - - - 1 INSiGHT group
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - VUS g.48018236G>T g.47791097G>T - - MSH6_000923 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - United Kingdom (Great Britain) - - - - - 1 Juul Wijnen
-/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - benign g.48018236G>T g.47791097G>T 431G>T - MSH6_000923 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - benign g.48018236G>T g.47791097G>T 431G>T - MSH6_000923 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - NA g.48018236G>T g.47791097G>T 431G>T - MSH6_000923 MMR activity, repair efficiency (G.T heteroduplex), 53,8% versus 100% Drost Hum Mutat 2012 33: 488-494. - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - NA g.48018236G>T g.47791097G>T S144I - MSH6_000923 comparison of mutation rate in yeast strain shows loss of function (no details presented) PubMed: Kolodner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - NA g.48018236G>T g.47791097G>T p.Ser144Ile - MSH6_000923 in vitro experiments indicate variant has defective ATP hydrolysis and the N-terminal fragment binds to DNA normally. PubMed: Cyr and Heinen 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - NA g.48018236G>T g.47791097G>T S144I - MSH6_000923 PolyPhen possibly damaging PubMed: Barnetson 2008 - - In silico - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - NA g.48018236G>T g.47791097G>T S144I - MSH6_000923 virus infected sf9 cell extract+in vitro MMR assay, repair efficiency comparable to WT PubMed: Kariola 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - NA g.48018236G>T g.47791097G>T S144I - MSH6_000923 ClustalW AA not conserved PubMed: Barnetson 2008 - - In silico - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - NA g.48018236G>T g.47791097G>T S144I - MSH6_000923 SIFT score tolerated PubMed: Barnetson 2008 - - In silico - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.431G>T r.(?) p.(Ser144Ile) Unknown - benign g.48018236G>T g.47791097G>T MSH6(NM_000179.2):c.431G>T (p.(Ser144Ile), p.S144I), MSH6(NM_000179.3):c.431G>T (p.S144I) - MSH6_000923 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- 2 c.431G>T r.(?) p.(Ser144Ile) Unknown - likely benign g.48018236G>T g.47791097G>T - - MSH6_000923 - - - - Germline/De novo (untested) - - - - - DNA SEQ - year test performed: 2016 CRC - - - M - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
-/. - c.431G>T r.(?) p.(Ser144Ile) Unknown - benign g.48018236G>T - MSH6(NM_000179.2):c.431G>T (p.(Ser144Ile), p.S144I), MSH6(NM_000179.3):c.431G>T (p.S144I) - MSH6_000923 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.431G>T r.(?) p.(Ser144Ile) Unknown - likely benign g.48018236G>T - MSH6(NM_000179.2):c.431G>T (p.(Ser144Ile), p.S144I), MSH6(NM_000179.3):c.431G>T (p.S144I) - MSH6_000923 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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