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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

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.52C>T r.(?) p.(Arg18Cys) Unknown - VUS g.37035090C>T g.36993599C>T MLH1(NM_000249.3):c.52C>T (p.(Arg18Cys), p.R18C) - MLH1_001887 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.52C>T r.(?) p.Arg18Cys Unknown - VUS g.37035090C>T g.36993599C>T - - MLH1_001887 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - no family history F - - - - 0 - - 1 Jack Ji
?/. 1 c.52C>T r.(?) p.Arg18Cys Unknown - VUS g.37035090C>T g.36993599C>T - - MLH1_001887 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 ? - - Mother (60) had Breast Cancer at 48 years old M - - - - 0 - - 1 Jack Ji
?/. 1 c.52C>T r.(?) p.Arg18Cys Unknown - VUS g.37035090C>T g.36993599C>T - - MLH1_001887 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 cancer, breast - - no family history F - - - - 0 - - 1 Jack Ji
?/. 1 c.52C>T r.(?) p.Arg18Cys Unknown - VUS g.37035090C>T g.36993599C>T - - MLH1_001887 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 ? - - Maternal grandmother (59, dec.) had Aplastic Anemia at 56 years old. Paternal grandmother (55, dec.) had Unknown Cancer at 46 years old; Paternal aunt (54) had Lung Cancer at 52 years old; Paternal aunt (23, dec.) had Acute Myeloid Leukemia at 22 years old; Father (56, dec.) had Pancreatic Cancer at 56 years old; Maternal grandfather (74, dec.) had Esophageal at 73 years old F - - - - 0 - - 1 Jack Ji
?/. 1 c.52C>T r.(?) p.Arg18Cys Unknown - VUS g.37035090C>T g.36993599C>T - - MLH1_001887 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 CRC - - Son (32) had Colorectal Cancer at 16 years old; Brother (60) had Colorectal Cancer at 58 years old M - - - - 0 - - 1 Jack Ji
?/. 1 c.52C>T r.(?) p.Arg18Cys Unknown - VUS g.37035090C>T g.36993599C>T 52C>T - MLH1_001887 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.52C>T r.(?) p.Arg18Cys Unknown - VUS g.37035090C>T g.36993599C>T 52C>T - MLH1_001887 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. - c.52C>T r.(?) p.(Arg18Cys) Parent #1 - NA g.37035090C>T - chr3_37035090_C_T - MLH1_001887 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 - 8/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 8 BRIDGES consortium
?/. - c.52C>T r.(?) p.(Arg18Cys) Parent #1 - NA g.37035090C>T - chr3_37035090_C_T - MLH1_001887 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 - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 6 BRIDGES consortium
?/. 1 c.52C>T r.(?) p.(Arg18Cys) Unknown - VUS g.37035090C>T - - - MLH1_001887 - - - - Germline/De novo (untested) - - - 0 - DNA ? - - cancer, endometrial - - - F - (United Kingdom (Great Britain)) - - 0 - - 1 InSiGHT - John-Paul Plazzer
?/. - c.52C>T r.(?) p.(Arg18Cys) Unknown - VUS g.37035090C>T - MLH1(NM_000249.3):c.52C>T (p.(Arg18Cys), p.R18C) - MLH1_001887 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query