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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

67 entries on 1 page. Showing entries 1 - 67.
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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.1459C>T r.(?) p.(Arg487Ter) Unknown - pathogenic g.37070324C>T g.37028833C>T MLH1(NM_000249.3):c.1459C>T (p.R487*), MLH1(NM_000249.4):c.1459C>T (p.R487*) - MLH1_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1459C>T r.(?) p.(Arg487Ter) Unknown - pathogenic g.37070324C>T g.37028833C>T MLH1(NM_000249.3):c.1459C>T (p.R487*), MLH1(NM_000249.4):c.1459C>T (p.R487*) - MLH1_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1459C>T r.(?) p.(Arg487*) Unknown InSiGHT pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1459C>T r.(?) p.(Arg487*) Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Gabriel Capella
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 c.1668-19A>G hetero; c.1459C>T hetero Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 13 c.1459C>T r.(?) p.Arg487* Parent #1 - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - Bressac-de Paillerets (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - France - - - - - 1 INSiGHT group
+/. 13 c.1459C>T r.(?) p.Arg487* Parent #1 - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - Bunyan - - Germline - - - - - DNA SEQ - - ? - - - ? - United Kingdom (Great Britain) - - - - - 1 INSiGHT group
+/. 13 c.1459C>T r.(?) p.Arg487* Parent #1 - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
+/. 13 c.1459C>T r.(?) p.Arg487* Parent #1 - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - Krepelova (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - Czech Republic - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 Somatic PubMed: Leung 1998 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T codon 488 - MLH1_000511 - PubMed: Fidalgo 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Peel 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Caldes 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Lage 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Caldes 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Casey 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Lee 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Losi 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Wehner 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Ponz de Leon 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Pedroni 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: Yap 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
?/. 13 c.1459C>T r.(?) p.Arg487* Unknown - VUS g.37070324C>T g.37028833C>T - - MLH1_000511 - Caldes Trinidad (unpublished) - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - - - Brazil - - - - - 1 Mev Dominguez Valentin
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - PubMed: De Lellis 2013 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - Italy - - - - - 1 Laura De Lellis
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Variant Allele: Paternal Confirmed José Luis Soto - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013535; M - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Variant Allele: Paternal Confirmed José Luis Soto - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013536; M - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Variant Allele: Paternal Inferred José Luis Soto - - Germline - - - - - DNA SEQ - - cancer, breast, CRC, cancer, endometrial - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013537; F - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Variant Allele: Paternal Inferred José Luis Soto - - Germline - - - - - DNA SEQ - - cancer, ovarian, CRC - - - F - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.(Arg487*) Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - cancer, endometrial - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487stop Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Patient developed metachronous CRC Yuen ST et al , Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - M - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487stop Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Leung SY et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487stop Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Yuen ST et al , Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Australian patient Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.(Arg487*) Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.(Arg487Ter) Unknown - VUS g.37070324C>T g.37028833C>T Exon 13 1459C>T p.Arg487*  - MLH1_000511 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.(Arg487Ter) Unknown - VUS g.37070324C>T g.37028833C>T Exon 13 1459C>T p.Arg487*  - MLH1_000511 - Desiree du Sart - - Germline - - - - - DNA SEQ - - CRC - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Nº affected carriers / family:7 Gabriel Capellá - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Nº affected carriers / family:4 Gabriel Capellá - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Nº affected carriers / family:2 Gabriel Capellá - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - - - - - - - 1 INSiGHT group
?/. 13 c.1459C>T r.(?) p.Arg487X Unknown - VUS g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 Nº affected carriers / family:3 Gabriel Capellá - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - - - - - - - 1 INSiGHT group
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 CRC - - Maternal grandmother (57, dec.) had Cervical Cancer at 48 years old; Paternal grandmother (58, dec.) had Lung Cancer at 57 years old F - - - - - - - 1 Jack Ji
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 CRC - - Maternal grandmother (80, dec.) had Breast Cancer at 78 years old; Maternal grandmother (80, dec.) had Colorectal Cancer at 78 years old; Maternal uncle (57) had Prostate Cancer at 55 years old; Maternal uncle (48, dec.) had Colorectal Cancer at 45 years old; Father (62, dec.) had Prostate Cancer at 62 years old F - - - - - - - 1 Jack Ji
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 CRC - - Brother (58) had Colorectal Cancer at 35 years old; Brother (65) had Colorectal Cancer at 54 years old; Brother (67, dec.) had Colorectal Cancer at 65 years old; Father (55, dec.) had Colorectal Cancer at 54 years old M - - - - - - - 1 Jack Ji
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Sister (22) had Colorectal Cancer at 17 years old; Paternal grandmother (45, dec.) had Colorectal Cancer at 43 years old; Sister (22) has a mutation in MLH1(c.1459C>T) F - - - - - - - 1 Jack Ji
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Daughter (21) had Colorectal Cancer at 17 years old; Mother (52, dec.) had Colorectal Cancer at 50 years old; Daughter (21) has a mutation in MLH1(c.1459C>T) M - - - - - - - 1 Jack Ji
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - - F - - - - - - - 1 Jack Ji
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 - - - - De novo - - - - - DNA ? - screen data 2011-01-01 CRC - B: in Win (2011) - M - - - - - - - 1 Ian Frayling
+/. 13 c.1459C>T r.(?) p.Arg487* Unknown - pathogenic g.37070324C>T g.37028833C>T 1459C>T - MLH1_000511 WT MaxEntScan score: 11.66; Variant MaxEntScan score: 11.66; 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 - - Brazil - - - - - 1 Mev Dominguez Valentin
+/. - c.1459C>T r.(?) p.(Arg487*) Unknown - pathogenic g.37070324C>T g.37028833C>T Nonsense - MLH1_000511 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. 13 c.1459C>T r.(?) p.(Arg487*) Unknown - pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1459C>T r.(?) p.(Arg487*) Unknown ACMG pathogenic g.37070324C>T g.37028833C>T - - MLH1_000511 ACMG grading: PVS1,PM2,PP5 Fidalgo et al. 2000. Eur J Hum Genet 8: 49; Rossi et al. 2017. BMC Cancer 17: 623; Carter et al. 2018. Gynecol Oncol 151: 481 - rs63749795 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+?/. 13 c.1459C>T r.(?) p.(Arg487*) Unknown InSiGHT pathogenic (dominant) g.37070324C>T - - - MLH1_000511 - - ClinVar-SCV000106210.2 rs63749795 Germline/De novo (untested) ? - - - - DNA SEQ-NG-I Whole blood - HNPCC (Lynch) MSI-PP-087 - - M no India - ? - - - 1 Harsh Sheth
+/. - c.1459C>T r.(?) p.(Arg487Ter) Unknown - pathogenic g.37070324C>T - MLH1(NM_000249.3):c.1459C>T (p.R487*), MLH1(NM_000249.4):c.1459C>T (p.R487*) - MLH1_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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