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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

22 entries on 1 page. Showing entries 1 - 22.
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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.65G>C r.(?) p.(Gly22Ala) Unknown - benign g.37035103G>C g.36993612G>C MLH1(NM_000249.3):c.65G>C (p.G22A) - MLH1_001732 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C MLH1(NM_000249.3):c.65G>C (p.G22A) - MLH1_001732 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C MLH1(NM_000249.3):c.65G>C (p.G22A) - MLH1_001732 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 1 c.65G>C r.(?) p.(Gly22Ala) Unknown InSiGHT benign g.37035103G>C g.36993612G>C - - MLH1_001732 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C - - MLH1_001732 Carrier frequency in Iceland (%): 0.07; Odds ratio for CRC (95%CI): 0.78 (0.33-1.88) PubMed: Haraldsdottir 2018 - - Germline - 0.07 - 0 - DNA ? - WGS (Illumina) 8,453 Icelanders, irrespective cancer status, mean depth >, 10X, all patients with dMMR CRC diagnosed 2000-2009 germline DNA typed for WGS MMR, when one of three founder mutations was absent WGS performed, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 1 Sigurdis Haraldsdottir
?/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C - - MLH1_001732 - PubMed: Kets 2006 PubMed: Overbeek 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C - - MLH1_001732 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
?/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C G22A - MLH1_001732 {GR:330} PubMed: Barnetson 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
?/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C - - MLH1_001732 - PubMed: Fearnhead 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C - - MLH1_001732 - PubMed: Woods 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - benign g.37035103G>C g.36993612G>C - - MLH1_001732 - PubMed: Barnetson 2008 - - Germline - 2/1051 controls - 0 - DNA ? - - HNPCC - - - ? - - - - 0 - - 1 Michael Woods
+/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - pathogenic g.37035103G>C g.36993612G>C G22A - MLH1_001732 {GR:330} PubMed: Barnetson 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
+/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - pathogenic g.37035103G>C g.36993612G>C G22A - MLH1_001732 {GR:330} PubMed: Barnetson 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
+/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - pathogenic g.37035103G>C g.36993612G>C G22A - MLH1_001732 {GR:330} PubMed: Chao 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
-/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - benign g.37035103G>C g.36993612G>C G22A - MLH1_001732 {GR:330} PubMed: Chao 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
+/. 1 c.65G>C r.(?) p.(Gly22Ala) Unknown - pathogenic g.37035103G>C g.36993612G>C G22A - MLH1_001732 {GR:330} PubMed: Chao 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
?/. 1 c.65G>C r.(?) p.Gly22Ala Unknown - VUS g.37035103G>C g.36993612G>C - - MLH1_001732 MLH1:c.65G>C + MSH6:c.814G>T Mensenkamp and Ligtenberg - - Germline - - - 0 - DNA SEQ - - cancer, endometrial - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016823; F - - - - 0 - - 1 INSiGHT group
-?/. 1 c.65G>C r.(?) p.Gly22Ala Unknown - likely benign g.37035103G>C g.36993612G>C - - MLH1_001732 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Father (79) had Pancreatic Cancer at 75 years old F - - - - 0 - - 1 Jack Ji
?/. - c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.37035103G>C g.36993612G>C MLH1(NM_000249.3):c.65G>C (p.G22A) - MLH1_001732 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65G>C r.(?) p.(Gly22Ala) Parent #1 - NA g.37035103G>C - chr3_37035103_G_C - MLH1_001732 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 - 33/60466 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 - 33 BRIDGES consortium
?/. - c.65G>C r.(?) p.(Gly22Ala) Parent #1 - NA g.37035103G>C - chr3_37035103_G_C - MLH1_001732 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 - 39/53461 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 - 39 BRIDGES consortium
-/. - c.65G>C r.(?) p.(Gly22Ala) Unknown - benign g.37035103G>C - MLH1(NM_000249.3):c.65G>C (p.G22A) - MLH1_001732 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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