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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

25 entries on 1 page. Showing entries 1 - 25.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T MSH6(NM_000179.2):c.3488A>T (p.E1163V), MSH6(NM_000179.3):c.3488A>T (p.E1163V) - MSH6_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - likely benign g.48032098A>T g.47804959A>T - - MSH6_000511 Insight class: 2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T - - MSH6_000511 Segregation Likelihood Ratio = 1.0639 - - - Germline ? - - - - DNA SEQ-NG-I, SEQ - - ?, CRC - - Second degree relative with CRC - - - - - - - - 1 Bryony A Thompson
?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T - - MSH6_000511 - PubMed: Shin 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T - - MSH6_000511 - PubMed: Yan 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T - - MSH6_000511 - PubMed: Nilbert 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T - - MSH6_000511 controls PubMed: Yan 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T - - MSH6_000511 - PubMed: Yan 2007 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T 3488A>T - MSH6_000511 3.65% (5/137 controls) - - - Unknown - - - - - DNA PCR, SEQ - - ? - PubMed: Yan 2007 - F - China - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T g.47804959A>T - - MSH6_000511 - {PMID 2766992:Takahashi 2012 - - Germline - - - - - DNA SEQ - - CRC - - - M - Japan Asian - - additional info and pedigree - 1 Masanobu Takahashi
-?/. 6 c.3488A>T r.(?) p.(Glu1163Val) Unknown - likely benign g.48032098A>T g.47804959A>T 3488A>T - MSH6_000511 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - likely benign g.48032098A>T g.47804959A>T MSH6(NM_000179.2):c.3488A>T (p.E1163V), MSH6(NM_000179.3):c.3488A>T (p.E1163V) - MSH6_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3488A>T r.(?) p.(Glu1163Val) Parent #1 - likely benign g.48032098A>T g.47804959A>T - - MSH6_000511 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs63750252 Germline - 4/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - benign g.48032098A>T - MSH6(NM_000179.2):c.3488A>T (p.E1163V), MSH6(NM_000179.3):c.3488A>T (p.E1163V) - MSH6_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - VUS g.48032098A>T - - - MSH6_000511 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.3488A>T r.(?) p.(Glu1163Val) Unknown - benign g.48032098A>T - MSH6(NM_000179.2):c.3488A>T (p.E1163V), MSH6(NM_000179.3):c.3488A>T (p.E1163V) - MSH6_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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