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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

68 entries on 1 page. Showing entries 1 - 68.
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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.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C MSH6(NM_000179.2):c.2633T>C (p.V878A, p.(Val878Ala)), MSH6(NM_000179.3):c.2633T>C (p.V878A) - MSH6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C MSH6(NM_000179.2):c.2633T>C (p.V878A, p.(Val878Ala)), MSH6(NM_000179.3):c.2633T>C (p.V878A) - MSH6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2633T>C r.(?) p.(Val878Ala) Unknown - likely benign g.48027755T>C g.47800616T>C MSH6(NM_000179.2):c.2633T>C (p.V878A, p.(Val878Ala)), MSH6(NM_000179.3):c.2633T>C (p.V878A) - MSH6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C MSH6(NM_000179.2):c.2633T>C (p.V878A, p.(Val878Ala)), MSH6(NM_000179.3):c.2633T>C (p.V878A) - MSH6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C MSH6(NM_000179.2):c.2633T>C (p.V878A, p.(Val878Ala)), MSH6(NM_000179.3):c.2633T>C (p.V878A) - MSH6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C MSH6(NM_000179.2):c.2633T>C (p.V878A, p.(Val878Ala)), MSH6(NM_000179.3):c.2633T>C (p.V878A) - MSH6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C MSH6(NM_000179.2):c.2633T>C (p.V878A, p.(Val878Ala)), MSH6(NM_000179.3):c.2633T>C (p.V878A) - MSH6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C - - MSH6_000772 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 3150_3162dup hetero; 116G>A hetero; 2633T>C hetero - MSH6_000772 - Gabriel Capell?í and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - M - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C p.Val878Ala - MSH6_000772 - PubMed: Hampel 2006,PubMed: Kantelinen 2012 - - Germline - - - - - DNA ? - - cancer, endometrial - - - F - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Parent #2 - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Plaschke 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Parent #1 - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Wijnen 1999 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen,J. 1999 - ? - Netherlands - - - - - 1 Juul Wijnen
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Parent #1 - VUS g.48027755T>C g.47800616T>C 2633T->C - MSH6_000772 - Ramesar (unpublished) 2004 - - Germline - - - - - DNA SEQ - - ? - Ramesar (unpublished) 2004 - ? - South Africa - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Parent #1 - VUS g.48027755T>C g.47800616T>C T>C at 2633 - MSH6_000772 - PubMed: Wijnen 1999 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen 1999 - ? - Netherlands - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Parent #1 - VUS g.48027755T>C g.47800616T>C T>C at 2633 - MSH6_000772 - PubMed: Wijnen 1999 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen 1999 - ? - Netherlands - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Parent #1 - VUS g.48027755T>C g.47800616T>C T>C at 2633 - MSH6_000772 - PubMed: Wijnen 1999 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen 1999 - ? - Netherlands - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Parent #1 - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Steinke 2008 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Charames 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Ohmiya 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Berends 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Figer 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Peterlongo 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Lipkin 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Caldes 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Plaschke 2004,PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Woods 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Sanchez de Abajo 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Dovrat 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Plaschke 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Pinto 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C A878V - MSH6_000772 - PubMed: Schafmayer 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Barnetson 2008 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Nilbert 2008,PubMed: Okkels 2012 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C V878A - MSH6_000772 controls PubMed: Barnetson 2008 - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - - - - Germline - - - - - DNA SEQ - - CRC - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Berends 2002 - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - - - - 1 Rolf Sijmons
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Perez-Cabornero 2009,PubMed: Perez-Cabornero 2013 - - Germline - - - - - DNA HD, SEQ - - ? - - - - - Spain - - - - - 1 Michael Woods
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Polly Newcomb and John Potter - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Noralane Lindor and Steve Thibodeau - - Germline - - - - - DNA SEQ - - ? - - 3 families segregation LR 0.19 ?û [Mayo CCFR], [Ontario CCFR], [FHCRC CCFR]; - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - 3 families segregation LR 0.19 ?û [Mayo CCFR], [Ontario CCFR], [FHCRC CCFR]; - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Polly Newcomb and John Potter - - Germline - - - - - DNA SEQ - - ? - - 3 families segregation LR 0.19 ?û [Mayo CCFR], [Ontario CCFR], [FHCRC CCFR]; - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Noralane Lindor and Steve Thibodeau - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Polly Newcomb and John Potter - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - cancer - - - M - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 INSiGHT group
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - VUS g.48027755T>C g.47800616T>C p.Val878Ala - MSH6_000772 - PubMed: Zidan 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - likely benign g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Hendriks 2006 - - Germline - - - - - DNA SEQ - - cancer, endometrial - PubMed: Hendriks 2006 - F - Netherlands - - - - - 1 Carli Tops
-/. 4 c.2633T>C r.(?) p.(Val878Ala) Parent #1 - benign g.48027755T>C g.47800616T>C - - MSH6_000772 - PubMed: Korhonen 2008 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Finland - - - - - 1 Rolf Sijmons
-/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - NA g.48027755T>C g.47800616T>C 2633T>C - MSH6_000772 MMR activity, repair efficiency (G.T heteroduplex), 89,8% versus 100% Drost Hum Mutat 2012 33: 488-494. - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - NA g.48027755T>C g.47800616T>C p.Val878Ala - MSH6_000772 in vitro experiments indicate that this variant has reduced function PubMed: Cyr and Heinen 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - NA g.48027755T>C g.47800616T>C V878A - MSH6_000772 SIFT score PubMed: Barnetson 2008 - - In silico - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - NA g.48027755T>C g.47800616T>C V878A - MSH6_000772 PolyPhen PubMed: Barnetson 2008 - - In silico - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.2633T>C r.(?) p.(Val878Ala) Unknown - NA g.48027755T>C g.47800616T>C V878A - MSH6_000772 ClustalW AA not conserved PubMed: Barnetson 2008 - - In silico - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2633T>C r.(?) p.(Val878Ala) Unknown - benign g.48027755T>C g.47800616T>C MSH6(NM_000179.2):c.2633T>C (p.V878A, p.(Val878Ala)), MSH6(NM_000179.3):c.2633T>C (p.V878A) - MSH6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2633T>C r.(?) p.(Val878Ala) Parent #1 - benign g.48027755T>C g.47800616T>C - - MSH6_000772 36 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2020912 Germline - 36/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 36 Mohammed Faruq
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