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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

15 entries on 1 page. Showing entries 1 - 15.
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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     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
?/? 1 c.-28A>G r.(?) p.(=) Unknown InSiGHT VUS g.37035011A>G g.36993520A>G - - MLH1_000936 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-28A>G r.(?) p.(=) Unknown - likely benign g.37035011A>G g.36993520A>G MLH1 c.-28A>G biallelic in cDNA - MLH1_000936 - - - - Germline - - - 0 - DNA MLPA, SEQ - - CRC - - sister 36 y two hyperplastic polyps, paternal aunt 35y breast cancer F - Germany - - 0 - - 1 Elke Holinski-Feder
-?/. 1 c.-28A>G r.(?) p.(=) Unknown - likely benign g.37035011A>G g.36993520A>G MLH1 c.[-28A>G;-7C>T] in 5`UTR - MLH1_000936 MLH1 c.[-28A>G;-7C>T] biallelic in cDNA, EPM2AIP1 3`UTR c.1824*2570G>T biallelic - - - Germline no - - 0 - DNA MLPA, SEQ - - CRC - - - M - (Germany) - - 0 no - 1 Elke Holinski-Feder
-?/. 1 c.-28A>G r.(?) p.(=) Unknown - likely benign g.37035011A>G g.36993520A>G - - MLH1_000936 MLH1 c.[-28A>G;-7C>T] in 5`UTR - - - Germline ? - - 0 - DNA SEQ-NG - - cancer, ovarian - - mother uterus and breast cancer of unknown age at diagnosis F - Germany - - 0 - - 1 Elke Holinski-Feder
-?/. 1 c.-28A>G r.(?) p.(=) Unknown - likely benign g.37035011A>G g.36993520A>G - - MLH1_000936 MLH1 c.[-28A>G;-7C>T] in 5`UTR - - - Germline - - - 0 - DNA SEQ-NG - - cancer, breast - - - F - Germany - - 0 no - 1 Elke Holinski-Feder
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Muller-Koch 2001 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Lee 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Fredriksson 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Yap 2009 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Nilbert 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 MLH1:c.-7C>T and MLH1 c.-28A>G Adrienne Sexton, Kirsty Mann,Desiree du Sart - - Germline - - - 0 - DNA ? - - ? - - Proband dx CRC 45y. No history of Lynch-related cancers in 1st or 2nd degree relatives;InSiGHT LOVDv2 ID:1016500; - - - - - 0 - - 1 INSiGHT group
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - - - - Germline - - - 0 - DNA ? - - CRC - - Tumour BRAF negative, no constitutional copy number alterations or sequence mutations in any exon of the MLH1, PMS2, MSH2 or MSH6 genes. Allelic representation confirmed 50 % MLH1 expression from the variant allele. No CMMRD.No MLH1 promoter methylation in tumour or constitutional DNA. Targeted high throughput sequencing failed to identify any other potentially pathogenic sequence alterations in 1.7Mb across the MLH1 locus.;InSiGHT LOVDv2 ID:1017191; F - - - - 0 - - 1 Luke Hesson
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G -28A>G - MLH1_000936 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G g.36993520A>G -28A>G - MLH1_000936 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. - c.-28A>G r.(?) p.(=) Unknown - VUS g.37035011A>G - MLH1(NM_000249.3):c.-28A>G - MLH1_000936 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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