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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

70 entries on 1 page. Showing entries 1 - 70.
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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     

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Age at death     

VIP     

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Owner     
-/. - c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A MLH1(NM_000249.3):c.1558+14G>A (p.(=)), MLH1(NM_000249.4):c.1558+14G>A - MLH1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A MLH1(NM_000249.3):c.1558+14G>A (p.(=)), MLH1(NM_000249.4):c.1558+14G>A - MLH1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A MLH1(NM_000249.3):c.1558+14G>A (p.(=)), MLH1(NM_000249.4):c.1558+14G>A - MLH1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A MLH1(NM_000249.3):c.1558+14G>A (p.(=)), MLH1(NM_000249.4):c.1558+14G>A - MLH1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 13i c.1558+14G>A r.(?) p.(=) Unknown InSiGHT benign g.37070437G>A g.37028946G>A - - MLH1_000539 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 13i c.1558+14G>A r.(?) p.(=) Parent #1 - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.1558+14G>A r.(?) p.(=) Parent #1 - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.1558+14G>A r.(?) p.(=) Parent #1 - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.1558+14G>A r.(?) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.1558+14G>A r.(?) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.1558+14G>A r.(?) p.(=) Parent #1 - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.1558+14G>A r.(?) p.(=) Parent #1 - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 13i c.1558+14G>A r.(?) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 Ca sigmoid @35y. Ca caecum @55y.Homozygous MLH1:c.1039-8T>A and a heterozygous change MLH1:c.1558+14G>A, Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13i c.1558+14G>A r.(?) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 PHx CRC @43IHC absent MLH1 & PMS2MLPA EPCAM also normal.MLH1 polys: c.1039-8T>A 9hom), c.1558+14G>A (het), c.1668-19G>A (het). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13i c.1558+14G>A r.(?) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 MLH1 testing requested.Het seq variants: c.1039-8T>A, c.1558+14G>A, c.1668-19A>G.EPCAM also neg on MLPA Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - United Kingdom (Great Britain) - - - - - 1 Juul Wijnen
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 13i c.1558+14G>A r.(=) p.(=) Parent #1 - VUS g.37070437G>A g.37028946G>A g -> a at 1558+13 - MLH1_000539 - Trinidad (unpublished) 1999 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 13i c.1558+14G>A r.(=) p.(=) Parent #1 - VUS g.37070437G>A g.37028946G>A g -> a at 1558+13 - MLH1_000539 - PubMed: Tannergard 1995 - - Germline - 0.06 - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Kowalski 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Ghimenti 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Furihata 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Kurzawski 2002,PubMed: Kurzawski 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Palicio 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Murata 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Ward 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Lee 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Giraldo 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Gomez 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Woods 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Fredriksson 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Yap 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 13i c.1558+14G>A r.(?) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A 1558+14G>A heterozygous. - MLH1_000539 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 13i c.1558+14G>A r.(?) p.(=) Unknown - VUS g.37070437G>A g.37028946G>A Het: 1558+14G>A/n - MLH1_000539 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - CRC dx 50y. BRAF NEG.;InSiGHT LOVDv2 ID:1016374; - - - - - - - - 1 INSiGHT group
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal aunt (62, dec.) had Breast Cancer at 60 years old; Paternal aunt (50, dec.) had Breast Cancer at 50 years old F - - - - - - - 1 Jack Ji
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Mother (66) had Breast Cancer at 30 years old; Maternal aunt (58, dec.) had Colon at 56 years old F - - - - - - - 1 Jack Ji
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Maternal grandmother (90 or older, dec.) had Colorectal Cancer at 85 years old; Paternal grandfather (87) had Lymphoma at 80 years old M - - - - - - - 1 Jack Ji
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Paternal aunt (66) had Colorectal Cancer at 56 years old; Maternal aunt (81) had Breast Cancer at 63 years old; Maternal grandmother (45, dec.) had Ovarian Cancer at 43 years old F - - - - - - - 1 Jack Ji
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Mother (90 or older, dec.) had Breast Cancer at 80 years old; Father (75, dec.) had Liver at 70 years old M - - - - - - - 1 Jack Ji
-/. 13i c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal grandmother (74, dec.) had Breast Cancer at 67 years old F - - - - - - - 1 Jack Ji
-?/. 13i c.1558+14G>A r.(=) p.(=) Unknown - likely benign g.37070437G>A g.37028946G>A - - MLH1_000539 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 cancer, breast - - Mother (1) had Breast Cancer at 28 years old; Sister (41) had Breast Cancer at 40 years old F - - - - - - - 1 Jack Ji
-/. - c.1558+14G>A r.(?) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 Control frequency on 160 Italian control chr: 0.02187 PubMed: Tricarico 2017 - - Germline - 0.02187 - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1558+14G>A r.(?) p.(=) Unknown - benign g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-?/. - c.1558+14G>A r.(?) p.(=) Unknown - likely benign g.37070437G>A g.37028946G>A - - MLH1_000539 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 Multiple polyposis - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A Homozygous NM_000249.2: 1039-8T>A and a heterozygous change 1558+14G>A - MLH1_000539 - - - - Germline - - - - - DNA SEQ - - CRC - - - - - - - - - - - 1 INSiGHT group
-/. - c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A 1039-8T>A+ 1558+14G>A+MSH2:p.Arg621* - MLH1_000539 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. 13i c.1558+14G>A r.(?) p.(=) Unknown - NA g.37070437G>A g.37028946G>A - - MLH1_000539 no effect on RNA PubMed: Tricarico 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A MLH1(NM_000249.3):c.1558+14G>A (p.(=)), MLH1(NM_000249.4):c.1558+14G>A - MLH1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1558+14G>A r.(=) p.(=) Unknown - benign g.37070437G>A g.37028946G>A MLH1(NM_000249.3):c.1558+14G>A (p.(=)), MLH1(NM_000249.4):c.1558+14G>A - MLH1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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