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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

12 entries on 1 page. Showing entries 1 - 12.
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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     
?/? 1 c.91_92delinsTG r.(?) p.(Ala31Cys) Unknown InSiGHT VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG - - MLH1_000965 Insight class: 3 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.91_92delinsTG r.(?) p.(Ala31Cys) Unknown - VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG 91_92delinsTG - MLH1_000965 - PubMed: Drost 2010 - - Unknown - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 1 c.91_92delinsTG r.91_92delinsug p.Ala31Cys Unknown - VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG - - MLH1_000965 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 1 c.91_92delinsTG r.91_92delinsug p.Ala31Cys Unknown - VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG - - MLH1_000965 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 1 c.91_92delinsTG r.91_92delinsug p.Ala31Cys Unknown - VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG - - MLH1_000965 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 1 c.91_92delinsTG r.(?) p.Ala31Cys Unknown - VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG 91_92delGCinsTG - MLH1_000965 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 cancer, breast - - Maternal aunt (71) had Lymphoma at 70 years old; Maternal aunt (71) had Colorectal Cancer at 70 years old; Sister (31) had Breast Cancer at 30 years old; Maternal grandmother (90 or older, dec.) had Colorectal Cancer at 80 years old F - - - - - - - 1 Jack Ji
?/. 1 c.91_92delinsTG r.(?) p.Ala31Cys Unknown - VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG 91_92delGCinsTG - MLH1_000965 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - - F - - - - - - - 1 Jack Ji
?/. 1 c.91_92delinsTG r.(?) p.Ala31Cys Unknown - VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG 91_92delGCinsTG - MLH1_000965 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Mother (87) had Merkel Cell Carcinoma at 64 years old; Maternal uncle (84) had Prostate Cancer at 77 years old; Maternal uncle (72, dec.) had Lung at 72 years old; Paternal grandfather (80, dec.) had Lung at 79 years old F - - - - - - - 1 Jack Ji
?/. 1 c.91_92delinsTG r.(?) p.Ala31Cys Unknown - VUS g.37035129_37035130delinsTG g.36993638_36993639delinsTG 91_92delinsTG - MLH1_000965 WT MaxEntScan score: 8.6; Variant MaxEntScan score: 8.6; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Uruguay - - - - - 1 Mev Dominguez Valentin
-/. 1 c.91_92delinsTG r.91_92delinsug p.Ala31Cys Unknown - NA g.37035129_37035130delinsTG g.36993638_36993639delinsTG A31C - MLH1_000965 {GR:395} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91_92delinsTG r.(?) p.(Ala31Cys) Parent #1 - NA g.37035129_37035130delinsTG - chr3_37035129_GC_TG - MLH1_000965 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.91_92delinsTG r.(?) p.(Ala31Cys) Parent #1 - NA g.37035129_37035130delinsTG - chr3_37035129_GC_TG - MLH1_000965 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 - 6/53461 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 - 6 BRIDGES consortium
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