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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Owner     
+/+ 2 c.122A>G r.117_207del p.Cys39* Unknown InSiGHT pathogenic g.37038115A>G g.36996624A>G - - MLH1_000067 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - VUS g.37038115A>G g.36996624A>G - - MLH1_000067 - - - - Germline - - - 0 - DNA SEQ - - ? - - CAPP2 study ? - United Kingdom (Great Britain) - - 0 - - 1 Juul Wijnen
?/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - VUS g.37038115A>G g.36996624A>G Aberrant splicing resulting in deletion of Exon 2 - MLH1_000067 - PubMed: Sharp 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - VUS g.37038115A>G g.36996624A>G - - MLH1_000067 - PubMed: Kruger 2004,PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - VUS g.37038115A>G g.36996624A>G D41G - MLH1_000067 {GR:236} PubMed: Chao 2008 - - Germline - - - 0 - DNA SEQ - - ?, HNPCC - - geogr. origin: German, age of onset: 34, 45, 52 and 40;InSiGHT LOVDv2 ID:1004788; ? - - - - 0 - - 1 Rolf Sijmons
+/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - pathogenic g.37038115A>G g.36996624A>G D41G - MLH1_000067 {GR:236} PubMed: Lucci-Cordisco 2006 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
+/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - pathogenic g.37038115A>G g.36996624A>G D41G - MLH1_000067 {GR:236} PubMed: Lucci-Cordisco 2006 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
+/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - pathogenic g.37038115A>G g.36996624A>G D41G - MLH1_000067 {GR:236} PubMed: Chao 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
?/+ 2 c.122A>G r.(?) p.Asp41Gly Unknown - VUS g.37038115A>G g.36996624A>G 122A>G - MLH1_000067 WT MaxEntScan score: 7.22; Variant MaxEntScan score: 7.22; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - 0 - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Brazil - - 0 - - 1 Mev Dominguez Valentin
-/. - c.122A>G r.(?) p.(Asp41Gly) Unknown - benign g.37038115A>G g.36996624A>G - - MLH1_000067 neither our minigene assay nor our patient RNA analysis showed skipping of MLH1 exon 2. Absence of aberrant splicing for this variant was confirmed by another clinical diagnostic laboratory using a fresh blood sample from the same patient"Germline (inherited) PubMed: van der Klift 2015 - - Germline - - - 0 - DNA ? - - ? - PubMed: van der Klift 2015 - - - - - - 0 - - 1 InSiGHT - John-Paul Plazzer
?/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - NA g.37038115A>G g.36996624A>G D41G - MLH1_000067 {GR:236} PubMed: Ellison 2004 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.122A>G r.(?) p.(Asp41Gly) Unknown - NA g.37038115A>G g.36996624A>G D41G - MLH1_000067 {GR:236} PubMed: Tournier 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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