Full data view for gene MLH1


MLH1 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000249.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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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.637G>A r.(?) p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A MLH1(NM_000249.3):c.637G>A (p.V213M, p.(Val213Met)), MLH1(NM_000249.4):c.637G>A (p.V213M) - MLH1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.637G>A r.(?) p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A MLH1(NM_000249.3):c.637G>A (p.V213M, p.(Val213Met)), MLH1(NM_000249.4):c.637G>A (p.V213M) - MLH1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 8 c.637G>A r.637g>a p.(Val213Met) Unknown InSiGHT benign g.37053550G>A g.37012059G>A - - MLH1_000299 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.637G>A r.(?) p.(Val213Met) Maternal (inferred) - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - - - - Germline - - - - - DNA MLPA, SEQ - screen data 2008-01-01 HNPCC (Lynch) - - 2 Gen; 4 Cases CRC 50,62,62,68; 1 Case breast Ca 30 F - - - - - - - 1 Ruth Armstrong
?/. 8 c.637G>A r.637g>a p.(Val213Met) Parent #1 - VUS g.37053550G>A g.37012059G>A G-> A at 637 - MLH1_000299 - Norbury (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - - Asian - - - - 1 INSiGHT group
?/. 8 c.637G>A r.637g>a p.(Val213Met) Parent #1 - VUS g.37053550G>A g.37012059G>A G>A at 637 - MLH1_000299 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - African - - - - 1 INSiGHT group
?/. 8 c.637G>A r.637g>a p.(Val213Met) Parent #1 - VUS g.37053550G>A g.37012059G>A G>A at 637 - MLH1_000299 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - African - - - - 1 INSiGHT group
?/. 8 c.637G>A r.637g>a p.(Val213Met) Parent #1 - VUS g.37053550G>A g.37012059G>A G>A at 637 - MLH1_000299 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 8 c.637G>A r.637g>a p.(Val213Met) Parent #1 - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - - - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Cape Verde - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - pathogenic g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - pathogenic g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Raevaara 2005 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A - - MLH1_000299 Authors describe the in vitro functional analysis as showing normal function. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 Authors describe this mutation as neutral, benign and/or tolerated based on various computational algorithms and the in vitro activity as wild type (see supplementary data). PubMed: Chan 2007 - - Unknown - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Fidalgo 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Cravo 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Lage 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Raevaara 2005 - - Germline - - - - - DNA ? - - ?, HNPCC (Lynch) - - all affected patients mean age at onset :42-67;InSiGHT LOVDv2 ID:1005647; ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Yuan 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Hampel 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A - - MLH1_000299 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - VUS g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - geogr. origin: African and Asian, age of onset: 44, 46, 64 and 67;InSiGHT LOVDv2 ID:1005656; ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A - - MLH1_000299 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.637G>A r.637g>a p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A V213M - MLH1_000299 {GR:82} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.637G>A r.(?) p.(Val213Met) Unknown - NA g.37053550G>A g.37012059G>A - - MLH1_000299 affected splicing (Fig 1A and 1B, S1 Table) in an in vivo minigene assay and in an in vitro splicing assay. ESR wt/mt difference:-0.661133. Significant in MaPSy PubMed: Rhine 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.637G>A r.(?) p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A MLH1(NM_000249.3):c.637G>A (p.V213M, p.(Val213Met)), MLH1(NM_000249.4):c.637G>A (p.V213M) - MLH1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.637G>A r.(?) p.(Val213Met) Unknown - benign g.37053550G>A g.37012059G>A MLH1(NM_000249.3):c.637G>A (p.V213M, p.(Val213Met)), MLH1(NM_000249.4):c.637G>A (p.V213M) - MLH1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.637G>A r.(?) p.(Val213Met) Parent #1 - NA g.37053550G>A - chr3_37053550_G_A - MLH1_000299 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 - 5/60466 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 - 5 BRIDGES consortium
?/. - c.637G>A r.(?) p.(Val213Met) Parent #1 - NA g.37053550G>A - chr3_37053550_G_A - MLH1_000299 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 - 9/53461 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 - 9 BRIDGES consortium
-/. - c.637G>A r.(?) p.(Val213Met) Unknown - benign g.37053550G>A - MLH1(NM_000249.3):c.637G>A (p.V213M, p.(Val213Met)), MLH1(NM_000249.4):c.637G>A (p.V213M) - MLH1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.637G>A r.(?) p.(Val213Met) Unknown - benign g.37053550G>A - MLH1(NM_000249.3):c.637G>A (p.V213M, p.(Val213Met)), MLH1(NM_000249.4):c.637G>A (p.V213M) - MLH1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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