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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

10 entries on 1 page. Showing entries 1 - 10.
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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.104_105delinsAC r.(?) p.(Met35Asn) Unknown - pathogenic g.37035142_37035143delinsAC g.36993651_36993652delinsAC MLH1(NM_000249.3):c.104_105delTGinsAC (p.M35N) - MLH1_000951 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.104_105delinsAC r.(?) p.(Met35Asn) Unknown InSiGHT pathogenic g.37035142_37035143delinsAC g.36993651_36993652delinsAC - - MLH1_000951 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.104_105delinsAC r.(?) p.(Met35Asn) Parent #1 - VUS g.37035142_37035143delinsAC g.36993651_36993652delinsAC - - MLH1_000951 - PubMed: Poley 2007 - - Germline - - - 0 - DNA ? - - ?, cancer, brain, cancer, kidney - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.104_105delinsAC r.(?) p.(Met35Asn) Unknown - VUS g.37035142_37035143delinsAC g.36993651_36993652delinsAC Met35Asn - MLH1_000951 - PubMed: Poley 2007 - - Germline - - - 0 - DNA SEQ - - ?, cancer, brain, cancer, kidney - PubMed: Wagner 2003, PubMed: Poley 2007 from large family (20028); boy 4y, >6 café-au lait spots;InSiGHT LOVDv2 ID:193; M - Netherlands - - 0 - - 1 Carli Tops
?/. 1 c.104_105delinsAC r.(?) p.(Met35Asn) Unknown - VUS g.37035142_37035143delinsAC g.36993651_36993652delinsAC Met35Arg - MLH1_000951 - PubMed: Poley 2007 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Poley 2007 from large family (20028);InSiGHT LOVDv2 ID:7091; ? - Netherlands - - 0 - - 1 Carli Tops
?/. 1 c.104_105delinsAC r.(?) p.(Met35Asn) Unknown - VUS g.37035142_37035143delinsAC g.36993651_36993652delinsAC - - MLH1_000951 - - - - Germline - - - 0 - DNA SEQ - - ? - - - ? - Netherlands - - 0 - - 1 Carli Tops
?/. 1 c.104_105delinsAC r.(?) p.(Met35Asn) Unknown - VUS g.37035142_37035143delinsAC g.36993651_36993652delinsAC 104_105delTGinsAC - MLH1_000951 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
?/. 1 c.104_105delinsAC r.(?) p.(Met35Asn) Unknown - VUS g.37035142_37035143delinsAC g.36993651_36993652delinsAC - - MLH1_000951 Note: this paper is from a poster presentation and pubmed link was unavailable. Reference found through Østergaard , 2005 (16283678) PubMed: Poley 2007 - - Germline - - - 0 - DNA ? - - cancer, brain, cancer, kidney - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.104_105delinsAC r.(?) p.(Met35Asn) Unknown - VUS g.37035142_37035143delinsAC g.36993651_36993652delinsAC - - MLH1_000951 - PubMed: Gille 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. - c.104_105delinsAC r.(?) p.(Met35Asn) Parent #1 - NA g.37035142_37035143delinsAC - chr3_37035142_TG_AC - MLH1_000951 not in 53461 controls; 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 - 1/60466 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 - 1 BRIDGES consortium
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