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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

41 entries on 1 page. Showing entries 1 - 41.
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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.1039-8T>A r.(=) p.(=) Parent #1 - benign g.37067120T>A g.37025629T>A - - MLH1_000877 LOVD - - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1039-8T>A r.(=) p.(=) Unknown - benign g.37067120T>A g.37025629T>A MLH1(NM_000249.3):c.1039-8T>A (p.(=)), MLH1(NM_000249.4):c.1039-8T>A - MLH1_000877 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039-8T>A r.(=) p.(=) Unknown - benign g.37067120T>A g.37025629T>A MLH1(NM_000249.3):c.1039-8T>A (p.(=)), MLH1(NM_000249.4):c.1039-8T>A - MLH1_000877 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039-8T>A r.(=) p.(=) Unknown - benign g.37067120T>A g.37025629T>A MLH1(NM_000249.3):c.1039-8T>A (p.(=)), MLH1(NM_000249.4):c.1039-8T>A - MLH1_000877 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039-8T>A r.(=) p.(=) Unknown - benign g.37067120T>A g.37025629T>A MLH1(NM_000249.3):c.1039-8T>A (p.(=)), MLH1(NM_000249.4):c.1039-8T>A - MLH1_000877 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039-8T>A r.(=) p.(=) Unknown - benign g.37067120T>A g.37025629T>A MLH1(NM_000249.3):c.1039-8T>A (p.(=)), MLH1(NM_000249.4):c.1039-8T>A - MLH1_000877 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11i c.1039-8T>A r.(?) p.(=) Unknown InSiGHT benign g.37067120T>A g.37025629T>A - - MLH1_000877 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A - - MLH1_000877 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
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A - - MLH1_000877 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
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A - - MLH1_000877 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
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 11i c.1039-8T>A r.(?) p.(=) Parent #1 - VUS g.37067120T>A g.37025629T>A t>a at 1039-8 - MLH1_000877 - Deffenbaugh (unpublished) - - Germline - 0.0297 - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A 1039-8T>A - MLH1_000877 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 11i c.1039-8T>A r.(?) p.(=) Both (homozygous) - VUS g.37067120T>A g.37025629T>A Homozygous NM_000249.2: 1039-8T>A and a heterozygous change 1558+14G>A - MLH1_000877 - Desiree du Sart - - Germline - - - - - DNA SEQ - - CRC - - - - - - - - - - - 1 INSiGHT group
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A mLH1:1039-8T>A - MLH1_000877 - Katie Ellis - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: BRAF mutation not detected; BRAF testing method: ;InSiGHT LOVDv2 ID:1016653; - - - - - - - - 1 INSiGHT group
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A mLH1:1039-8T>A - MLH1_000877 - Katie Ellis - - Germline - - - - - DNA SEQ - - CRC - - - - - - - - - - - 1 INSiGHT group
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A mLH1:1039-8T>A - MLH1_000877 - Katie Ellis - - Germline - - - - - DNA SEQ - - cancer, rectal - - - - - - - - - - - 1 INSiGHT group
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A mLH1:1039-8T>A - MLH1_000877 - Katie Ellis - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 11i c.1039-8T>A r.(?) p.(=) Unknown - VUS g.37067120T>A g.37025629T>A MLH1:1039-8T>A + MSH6:3185G>T + 3195C>T - MLH1_000877 MSH6 variant segregates in one family, presymptomatic testing offered in this family Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - cancer, endometrial - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016865; F - - - - - - - 1 INSiGHT group
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A 1039-8T>A - MLH1_000877 - {PMID:Petersen BMC Med Genet. 2013 Oct 3;14:103.:24090359} - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A 1039-8T>A - MLH1_000877 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A 1039-8T>A - MLH1_000877 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A 1039-8T>A - MLH1_000877 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A 1039-8T>A - MLH1_000877 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A 1039-8T>A - MLH1_000877 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. - c.1039-8T>A r.(=) p.(=) Unknown - benign g.37067120T>A g.37025629T>A 1039-8T>A+ 1558+14G>A+MSH2:p.Arg621* - MLH1_000877 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 0.02187 in 160 Italian controls PubMed: Tricarico 2017 - - Germline - 0.02187 - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1039-8T>A r.(?) p.(=) Unknown - benign g.37067120T>A g.37025629T>A - - MLH1_000877 0.02187 in 160 Italian controls PubMed: Tricarico 2017 - - Germline - 0.02187 - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 Multipe polyposis - - Italy - - - - - 1 Maurizio Genuardi
-/. 11i c.1039-8T>A r.(?) p.(=) Unknown - NA g.37067120T>A g.37025629T>A - - MLH1_000877 no effect on RNA PubMed: Tricarico 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1039-8T>A r.(?) p.(=) Unknown - NA g.37067120T>A g.37025629T>A - - MLH1_000877 mRNA assay (splicing analysis,2015): partial loss exon 12 ( on patient's mRNA) PubMed: Tricarico 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039-8T>A r.(=) p.(=) Unknown - benign g.37067120T>A g.37025629T>A MLH1(NM_000249.3):c.1039-8T>A (p.(=)), MLH1(NM_000249.4):c.1039-8T>A - MLH1_000877 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- 11i c.1039-8T>A r.(=) p.(=) Unknown - likely benign g.37067120T>A g.37025629T>A - - MLH1_000877 - - - - Germline/De novo (untested) - - - - - DNA SEQ - year test performed: 2015 cancer, endometrial - - - F - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
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