Unique variants in the MLH1 gene


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

1809 entries on 19 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 12 c.1254T>R r.(?) p.(Asp418Glu) - NA g.37067343T>R g.37025852T>R - - MLH1_001093 Results from site-directed mutagenesis PubMed: Chen 2004 - - In vitro (cloned) - - - - - Michael Woods
?/. 1 ? c.? r.(?) p.? - VUS g.36998760_? - Balanced translocation - MLH1_000000 Balanced translocation. Found in 1 family PubMed: Haraldsdottir 2018 - - Germline - - - - - Sigurdis Haraldsdottir
+/+, ?/. 3 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 InSiGHT pathogenic, VUS g.[37049179_37051317delinsTG;37051667_37054327delinsCA] - Authors describe mutation as the deletion of Exon 6-8 with the partial retention of Intron 6, 1 more item - MLH1_001305 Insight class: 5 InSiGHT, PubMed: Li 2006, PubMed: McVety 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/. 1 _1_19_ c._-198_*193{0}  r.0? p.0? ACMG pathogenic g.(?_37034841)_(37092337_?)del g.(?_36993350)_(37050846_?)del - - MLH1_001571 - - - - Germline - - - - - Kathleen Claes
+/+, +/., ?/. 3 _1_19_ c.-73960_*46597del r.0? p.0? InSiGHT pathogenic, VUS g.36961079_37138741del g.36919588_37097250del -73960_*46597del, Deletion of Exon 1-19 - MLH1_000959 Insight class: 5 InSiGHT, PubMed: Staaf 2008 - - De novo, Germline, SUMMARY record - - - - - Ian Frayling, InSiGHT - John-Paul Plazzer, Michael Woods
+?/. 1 1-19 c.(?_-71039)_(*22856_?)dup r.(?) p.(?) ACMG VUS g.(?_36964000)_(37115000_?)dup - - - MLH1_002148 NG_007109.2(NM_000249.3):c.(?_-71039)_(*22856_?)dup / NC_000003.11:g.(?_36964000)_(37115000_?)dup - - - Germline ? - - - - Andreas Laner
-/-, ?/. 3 _1 c.-4864C>A r.(=) p.(=) InSiGHT benign, VUS g.37030175C>A g.36988684C>A - - MLH1_000938 Insight class: 1 InSiGHT, PubMed: Schafmayer 2007 - rs9311149 Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 _1 c.-593G>C r.(=) p.(=) - VUS g.37034446G>C g.36992955G>C EPM2AIP1 123C>G p.= - MLH1_001803 biallelic expression of EPM2AIP1 c.123C>G, MLH1 no informative SNP - - - Germline ? - - - - Elke Holinski-Feder
?/. 1 _1 c.-477T>C r.(=) p.(=) - VUS g.37034562T>C g.36993071T>C EPM2AIP1 7A>G p.Met3Val (MLH1 -477T>C not in 5`UTR) - MLH1_001802 EPM2AIP1 biallelic in c.7A>G p.Met3Val, MLH1 without informative SNPs - - - Germline - - - - - Elke Holinski-Feder
?/. 2 _1 c.-435_-432del r.(=) p.(=) - NA, VUS g.37034604_37034607del g.36993113_36993116del - - MLH1_001801 105% and 102% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively., 1 more item PubMed: Ward (2013) - - Germline, In vitro (cloned) - - - - - Robyn Ward
?/. 2 _1 c.-413_-411del r.(=) p.(=) - NA, VUS g.37034626_37034628del g.36993135_36993137del - - MLH1_001800 77% and 89% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively., 1 more item PubMed: Ward (2013) - - Germline, In vitro (cloned) - - - - - Robyn Ward
+/+, ?/. 3 _1_2i c.-381_207+606del r.0? p.0? InSiGHT pathogenic, VUS g.37034658_37038806del g.36993167_36997315del del Ex1-2, ~4.1kb, Deletion of Exon 1-2 - MLH1_000944 Insight class: 5 InSiGHT, PubMed: van der Klift 2005, PubMed: van der Klift 2005,PubMed: Chong 2009 - - Germline, SUMMARY record - - - - - Juul Wijnen, InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 _1 c.-369A>G r.(=) p.(=) - VUS g.37034670A>G g.36993179A>G EPM2AIP1 -102T>C (MLH1 -369A>G not in 5`UTR) - MLH1_001799 - - - - Germline - - - - - Elke Holinski-Feder
-?/-?, -?/., ?/. 14 _1 c.-269C>G r.(=), r.= p.(=), p.= InSiGHT likely benign, VUS g.37034770C>G g.36993279C>G -269C>G, EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 EPM2AIP1 c.-202G>C biallelic, MLH1 without informative SNPs, Insight class: 2, 2 more items InSiGHT, PubMed: Pinto 2017, PubMed: Zavodna 2006 - - Germline, SUMMARY record ? ? - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, INSiGHT group
?/. 1 _1 c.-261G>A r.(=) p.(=) - VUS g.37034778G>A g.36993287G>A - - MLH1_001797 - PubMed: Pinto 2017 - - Germline - - - - - InSiGHT - John-Paul Plazzer
?/. 1 _1 c.-230G>C r.(=) p.(=) - VUS g.37034809G>C g.36993318G>C MLH1 -230G>C or EPM2AIP1 -241C>G; not in 5`UTR of MLH1 or EPM2AIP1 - MLH1_001796 - - - - Germline ? - - - - Elke Holinski-Feder
-?/. 1 - c.-221C>T r.(?) p.(=) - likely benign g.37034818C>T g.36993327C>T - - EPM2AIP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-213G>A r.(?) p.(=) - likely benign g.37034826G>A g.36993335G>A - - EPM2AIP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., ?/. 5 _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37035155_37038109)del - (?_-198)_116+?del, Deletion of Exon 1 - MLH1_000941 Insight class: 5, 1 more item InSiGHT, InSiGHT, PubMed: Rossi 2017, PubMed: Barnetson 2006, PubMed: De Lellis 2006, PubMed: Zhu 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Mev Dominguez Valentin
?/., ?/? 2 _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? InSiGHT VUS g.(?_37034841)_(37035155_37038109)dup - Duplication of Exon 1 - MLH1_000942 Insight class: 3 InSiGHT, PubMed: Zhu 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, ?/. 5 _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? InSiGHT NA, pathogenic, VUS g.(?_37034841)_(37038201_37042445)del - (?_-198)_207+?del, Deletion of Exon 1-2 - MLH1_001607 2 index patients: male 41 y C. asc. Ca T3No , other female 46 y CC C18.9, no IHC, both Bethesda-pos., 2 more items InSiGHT, Elke Holinski-Feder and Monika Morak, PubMed: Baudhuin 2005, PubMed: Bertholon 2006, 1 more item - - Germline, In vitro (cloned), SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+/. 3 - c.(?_-198)_306+?del r.(?) p.? - pathogenic g.37034841_37042544del - 1-?_306+?del Deletion exons 1–3 - MLH1_002063 1 more item PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/+, +/., ?/. 6 1-3, _1_3i c.(?_-198)_(306+1_307-1)del r.0?, r.?, r.spl? p.0?, p.? InSiGHT pathogenic, VUS g.(?_37034841)_(37042545_37045891)del - (?-198)_306+?del/Del exon 1-3, c.1_306del, Deletion of Exon 1-3, deletions of exons 1–3 - MLH1_000946 Insight class: 5 InSiGHT, PubMed: Spaepen 2006, PubMed: Spaepen 2006 Genuardi (unpublished) - - Germline, Germline/De novo (untested), SUMMARY record - - - - - Maurizio Genuardi, InSiGHT - John-Paul Plazzer, Michael Woods, Thomas Hansen, Grigorij Yanus
+/+, ?/. 2 _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37045966_37048481)del - 1-?_388+?del (Del ex01-04 (80 Kb del)) - MLH1_001570 Variant Allele: Maternal Inferred, Insight class: 5 InSiGHT, José Luis Soto - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
+/+, ?/. 6 _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37050397_37053310)del - Deletion of Exon 1-6, MLH1 exon 1-6 del phase unknown, 1 more item - MLH1_001724 MLH1:c.1569G>T; MLH1:c.(?_-198)_545+?del (in cis), Insight class: 5 InSiGHT, Desiree du Sart, Desiree du Sart, Mark Jenkins, PubMed: Taylor 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Mark Jenkins
+/+, +/., ?/. 11 _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37059091_37061800)del - Deletion E1-10, Deletion of Exon 1-10, ex01_ex10del - MLH1_000949 Insight class: 5 InSiGHT, PubMed: Grabowski 2005, PubMed: Mangold 2005, PubMed: Mangold 2005, PubMed: Wang 2002, 1 more item - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Peter Propping, Prof. Dr. med., Beate Dr. Betz
+/+, ?/. 2 _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37061955_37067127)del - Exon 1 to Exon 11 (1-?_1038+?del) - MLH1_001667 Insight class: 5 InSiGHT, Desiree du Sart - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
+/+, ?/. 9 _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37070424_37081676)del - (?_-198)_1558+?del, del Ex1-13, Deletion of Exon 1-13, 1 more item - MLH1_000013 Insight class: 5 InSiGHT, Robert HaileTherese Teitsch, Robert HaileTherese Teitsch, Polly Newcomb and John Potter, 5 more items - - Germline, SUMMARY record - - - - - Juul Wijnen, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+/. 1 - c.(?_-198)_1731+?del r.(?) p.? - pathogenic g.37034841_37083822del - 1-?_1731+?del Deletion exons 1–15 - MLH1_002064 1 more item PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/+, +/., ?/. 8 _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37083823_37089009)del - (?_-198)_1731+?del, del ex1-15, Deletion of Exon 1-15 - MLH1_001614 Insight class: 5 InSiGHT, Kristina Lagerstedt Robinson,PubMed: Lagerstedt Robinson 2007,PubMed: Nilbert 2002, 5 more items - - Germline, SUMMARY record - - - - - Kristina Lagerstedt Robinson, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+/+, +/., ?/. 14 _1_19_ c.(?_-198)_(*193_?)del r.(?), r.0? p.0?, p.? InSiGHT pathogenic, VUS g.(?_37034841)_(37092337_?)del, g.37034841_37092337del - 1-?_2271+?del, 1-?_2271+?del (Del ex01-19 (123 Kb del)), 1-?_2271+?del (Del ex01-19), Deletion of MLH1, 3 more items - MLH1_001571 c.1668-19A>G + c.(?_-373)_(108+?)del this variant segregates with phenotype in 1 family member, 5 more items InSiGHT, Maurizio Genuardi, José Luis Soto, José Luis Soto, PubMed: Di Fiore 2004, 5 more items - - Germline, SUMMARY record - - - - - Kristina Lagerstedt Robinson, Juul Wijnen, Maurizio Genuardi, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
?/. 2 1 c.-118G>A r.(?) p.(=) - VUS g.37034921G>A g.36993430G>A -118G>A - MLH1_001794 - - - - Germline - - - - - Thomas Hansen
+?/., -?/-? 2 1 c.-107C>G r.(?) p.(=) InSiGHT likely benign, likely pathogenic g.37034932C>G g.36993441C>G - - MLH1_000937 Authors descibe this variant as reducing transciption activity by 51%., Insight class: 2 InSiGHT, PubMed: Zhong 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-?/., ?/. 3 1 c.-101C>G r.(?) p.(=) - likely benign, VUS g.37034938C>G g.36993447C>G -101C>G - MLH1_001793 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Thomas Hansen, VKGL-NL_Nijmegen
-/-, -/., ?/. 75 1 c.-93G>A r.(?) p.(=) InSiGHT benign, VUS g.37034946G>A g.36993455G>A 1-93G>A, A>G., G -> A at 1-93, MLH1(NM_000249.3):c.-93G>A - MLH1_001761 Authors describe this variant as being associated with an increased risk of invasive ovarian cancer., 16 more items contributed by Dept. of Dr Vaccaro, InSiGHT, Kristina Lagerstedt Robinson, PubMed: Allan 2008, 36 more items - rs1800734 CLASSIFICATION record, Germline, Somatic, SUMMARY record, Unknown - -, 0.5 - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Angela Solano & F Cardoso, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Wan Khairunnisa Wan Juhari, Carlos Vaccaro
?/., ?/? 2 1 c.-64G>T r.(?) p.(=) InSiGHT VUS g.37034975G>T g.36993484G>T - - MLH1_001496 Insight class: 3 InSiGHT - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Peng Nan
+?/. 1 1 c.-63_-58delinsCACGAGGCACGAGCACGA r.(=) p.(=) - likely pathogenic g.37034976_37034981delinsCACGAGGCACGAGCACGA g.36993485_36993490delinsCACGAGGCACGAGCACGA - - MLH1_001804 1 more item - - - Germline - - - - - Elke Holinski-Feder
?/., ?/? 2 1 c.-53G>T r.(?) p.(=) InSiGHT VUS g.37034986G>T g.36993495G>T - - MLH1_001451 Insight class: 3 Dominguez unpublished, InSiGHT - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Mev Dominguez Valentin
+/., ?/., ?/? 9 1 c.-42C>T r.(=), r.(?) p.(=) InSiGHT NA, pathogenic, VUS g.37034997C>T g.36993506C>T -42C->T, -42C>T - MLH1_001591 Functional studies indicated loss of efficiency, Testing stopped when variant detected, 3 more items InSiGHT, Noralane Lindor and Steve Thibodeau, Mark Jenkins John Hopper, PubMed: Green 2003, 3 more items - - Germline, In vitro (cloned), SUMMARY record ? - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Robyn Ward
-?/. 1 - c.-41G>A r.(?) p.(=) - likely benign g.37034998G>A g.36993507G>A MLH1(NM_000249.3):c.-41G>A - MLH1_001996 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 1 c.-33T>G r.(?) p.(=) - VUS g.37035006T>G g.36993515T>G - - MLH1_001798 - - - - Germline ? - - - - Elke Holinski-Feder
-?/., ?/., ?/? 15 1 c.-28A>G r.(?) p.(=) InSiGHT likely benign, VUS g.37035011A>G g.36993520A>G -28A>G, MLH1 c.-28A>G biallelic in cDNA, MLH1 c.[-28A>G;-7C>T] in 5`UTR, 1 more item - MLH1_000936 MLH1 c.[-28A>G;-7C>T] in 5`UTR, MLH1:c.-7C>T and MLH1 c.-28A>G, Insight class: 3, 2 more items InSiGHT, Adrienne Sexton, Kirsty Mann,Desiree du Sart, PubMed: Fredriksson 2006, PubMed: Lee 2005, 3 more items - - CLASSIFICATION record, Germline, SUMMARY record ?, no - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Thomas Hansen, VKGL-NL_NKI, Luke Hesson
?/., ?/? 3 1 c.-28A>T r.(?) p.(=) InSiGHT VUS g.37035011A>T g.36993520A>T - - MLH1_000945 Insight class: 3 InSiGHT, PubMed: Isidro 2003, PubMed: Mangold 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Peter Propping, Prof. Dr. med.
+/+, +/., +?/. 6 1 c.-27C>A r.(?), r.-27c>a p,?, p.(=), p.0 - likely pathogenic, pathogenic g.37035012C>A g.36993521C>A - - MLH1_001521 VKGL data sharing initiative Nederland, 4 more items InSiGHT, PubMed: Hitchins 2011 - - CLASSIFICATION record, Germline, SUMMARY record - Private - - - InSiGHT - John-Paul Plazzer, Robyn Ward, Megan Hitchins, VKGL-NL_Nijmegen
?/. 3 1 c.-11C>T r.(?) p.(=) - NA, VUS g.37035028C>T g.36993537C>T - - MLH1_001795 Testing stopped when variant detected, 1 more item PubMed: Ward (2013) - - Germline, In vitro (cloned) - - - - - Robyn Ward
-?/., ?/., ?/? 11 1 c.-7C>T r.(?) p.(=) InSiGHT likely benign, VUS g.37035032C>T g.36993541C>T -7C>T, MLH1 c.[-28A>G;-7C>T] - MLH1_000939 MLH1 c.[-28A>G;-7C>T] in 5`UTR, MLH1:c.-7C>T and MLH1 c.-28A>G, Insight class: 3, 1 more item InSiGHT, Adrienne Sexton, Kirsty Mann,Desiree du Sart, PubMed: Fredriksson 2006, 2 more items - - Germline, SUMMARY record, Unknown ?, no - - - - Kristina Lagerstedt Robinson, Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Thomas Hansen, Luke Hesson
+?/. 1 - c.1896+32_*193{0} r.? p.? ACMG likely pathogenic (dominant) g.37089206_37092344del - - - MLH1_002186 - - - - Germline/De novo (untested) ? - - - - Harsh Sheth
+?/. 1 1 c.1A>C r.(?) p.(Met1?) - likely pathogenic g.37035039A>C g.36993548A>C - - MLH1_002058 1 more item - - - Germline ? - - - - Samantha Butler
+/+, +/. 3 1 c.1A>G r.(?) p.(Met1?) InSiGHT pathogenic g.37035039A>G g.36993548A>G - - MLH1_001457 ICCON data, Prince of Wales Hospital, NSW, Insight class: 5 InSiGHT, PubMed: Scott 2001 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Rodney Scott
+/+, +/., ?/. 6 1 c.2T>A r.(?) p.0? InSiGHT pathogenic, VUS g.37035040T>A g.36993549T>A T -> A at 2 - MLH1_000031 Insight class: 5 InSiGHT, PubMed: Lamberti 1999, PubMed: Mangold 2005, PubMed: Mangold 2005, PubMed: Wehner 1997 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med.
+/+, +/., ?/. 5 1 c.2T>C r.(?), r.? p.(Met1?), p.0?, p.? InSiGHT NA, pathogenic, VUS g.37035040T>C g.36993549T>C chr3_37035040_T_C, MLH1(NM_000249.3):c.2T>C (p.M1?) - MLH1_001488 VKGL data sharing initiative Nederland, Insight class: 5, 1 more item InSiGHT, PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline, SUMMARY record - 1/60466 cases - - - Ans M.W. van den Ouweland, InSiGHT - John-Paul Plazzer, VKGL-NL_Rotterdam, VKGL-NL_AMC, BRIDGES consortium
+/+, +?/., -/., ?/. 8 1 c.2T>G r.(?) p.(Met1?), p.0? InSiGHT likely pathogenic, NA, pathogenic, VUS g.37035040T>G g.36993549T>G M1R, p.Met1Arg - MLH1_000032 VKGL data sharing initiative Nederland, Insight class: 5, {GR:394} InSiGHT, PubMed: Auclair 2006, PubMed: Kim 2004, PubMed: Shimodaira 1998, PubMed: Wang 1997, 1 more item - - CLASSIFICATION record, Germline, In vitro (cloned), SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons, VKGL-NL_Nijmegen
+/+, +/., ?/. 6 1 c.3G>A r.(?) p.(Met1?) InSiGHT pathogenic, VUS g.37035041G>A g.36993550G>A MLH1*3G>A, Submitter described this as p.Met1Ile. - MLH1_000960 This was previously stored in the incorrect gene (MSH6 instead of MLH1), Insight class: 5 Bapat, unpublished, InSiGHT, PubMed: Barnetson 2006, PubMed: Guillem 2007 - - Germline, SUMMARY record, Unknown - - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Michael Woods, Bharati Bapat, Helen Lindsay
+/+, +/. 2 1 c.5C>A r.(?) p.(Ser2*) InSiGHT pathogenic g.37035043C>A g.36993552C>A - - MLH1_000853 Insight class: 5 InSiGHT, Piepoli (unpublished) - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
?/. 1 - c.5C>T r.(?) p.(Ser2Leu) - NA g.37035043C>T - chr3_37035043_C_T - MLH1_002191 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 2 - c.9C>G r.(?) p.(Phe3Leu) - NA g.37035047C>G - chr3_37035047_C_G - MLH1_002192 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
+/+, +/., ?/. 5 1 c.9del r.(?) p.(Phe3Leufs*14), p.Phe3Leufs*14 InSiGHT pathogenic, VUS g.37035047del g.36993556del 9delC - MLH1_000966 ICCON data, Royal Prince Alfred/Liverpool, NSW, Insight class: 5 InSiGHT, PubMed: Bisgaard 2002, PubMed: Nilbert 2008, 1 more item - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Thomas Hansen
+/+, ?/. 2 1 c.15_28del r.(?) p.(Gly6Alafs*20) InSiGHT pathogenic, VUS g.37035053_37035066del g.36993562_36993575del - - MLH1_000956 Insight class: 5 InSiGHT, PubMed: Overbeek 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 - c.17G>T r.(?) p.(Gly6Val) - NA g.37035055G>T - chr3_37035055_G_T - MLH1_002193 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/+, +/., ?/. 11 1 c.18_34del r.(?) p.(Val7Argfs*18) InSiGHT pathogenic, VUS g.37035056_37035072del g.36993565_36993581del 17-bp del at ? - MLH1_000029 Insight class: 5 InSiGHT, PubMed: Gille 2002, PubMed: Overbeek 2007, PubMed: van Puijenbroek 2008, PubMed: Wijnen 1997, 1 more item - - Germline, SUMMARY record - - - - - Juul Wijnen, Carli Tops, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Beate Dr. Betz
?/. 3 - c.19G>T r.(?) p.(Val7Phe) - NA, VUS g.37035057G>T g.36993566G>T chr3_37035057_G_T, Missense - MLH1_002065 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Lagerstedt-Robinson 2016 - - Germline - 1/53461 controls, 8/60466 cases - - - Kristina Lagerstedt Robinson, BRIDGES consortium
+/+, ?/. 2 1 c.19_35del r.(?) p.(Val7Argfs*18) InSiGHT pathogenic, VUS g.37035057_37035073del g.36993566_36993582del Gly6fsX29 - MLH1_000030 Insight class: 5 InSiGHT, PubMed: Niessen 2006 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 - c.21T>C r.(=) p.(=) - VUS g.37035059T>C g.36993568T>C - - MLH1_001998 MGZ# 70745, Alamut: no change of splice-site usage - - - Germline - - - - - Andreas Laner
+/+, +/. 2 1 c.22dup r.(?) p.(Ile8Asnfs*23) InSiGHT pathogenic g.37035060dup g.36993569dup Submitter described this as 22insA, p.Ile8fsX. - MLH1_001410 Insight class: 5 InSiGHT - - Germline, SUMMARY record - - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer
?/., ?/? 2 1 c.25C>T r.25c>u p.Arg9Trp InSiGHT VUS g.37035063C>T g.36993572C>T - - MLH1_001506 Insight class: 3 InSiGHT, PubMed: Borras 2012 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Gabriel Capella
?/. 5 1 c.27= r.(=) p.(=) - VUS g.37035065= g.36993574= 27G (wild-type) - MLH1_001867 Testing stopped when variant detected PubMed: Ward (2013) - - Germline - - - - - Robyn Ward
?/. 2 1 c.27G>A r.(=) p.(=) - VUS g.37035065G>A g.36993574G>A - - MLH1_001868 Testing stopped when variant detected PubMed: Ward (2013) - - Germline - - - - - InSiGHT - John-Paul Plazzer, Robyn Ward
+/. 1 1 c.29delinsCT r.(?) p.(Arg10Profs*21) - pathogenic g.37035067delinsCT g.36993576delinsCT - - MLH1_002418 - - - - Germline/De novo (untested) - - - - - Treena Cranston
+/+, ?/. 3 1 c.31del r.(?) p.(Leu11Trpfs*6) InSiGHT pathogenic, VUS g.37035069del g.36993578del - - MLH1_000957 Insight class: 5 InSiGHT, PubMed: Kadiyska 2006, PubMed: Kadiyska 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 - c.34G>T r.(?) p.(Asp12Tyr) - VUS g.37035072G>T g.36993581G>T Missense - MLH1_002066 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
?/. 1 1 c.36C>G r.(?) p.(Asp12Glu) - VUS g.37035074C>G g.36993583C>G - - MLH1_002419 - - - - Germline/De novo (untested) - Not on EVS/ExAC - - - Treena Cranston
?/. 1 1 c.36_38del r.(?) p.Asp12del - VUS g.37035074_37035076del g.36993583_36993585del 36_38del - MLH1_001877 - - - - De novo - - - - - Ian Frayling
+/+, +/., ?/. 7 1 c.37del r.(?) p.(Glu13Argfs*4) InSiGHT pathogenic, VUS g.37035075del g.36993584del del G at 37 - MLH1_000034 Insight class: 5 InSiGHT, PubMed: Jakubowska 2001, PubMed: Kurzawski 2001, PubMed: Kurzawski 2002, 2 more items - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
?/. 2 1 c.37G>A r.(?) p.(Glu13Lys) - NA, VUS g.37035075G>A g.36993584G>A chr3_37035075_G_A - MLH1_001879 Carrier frequency in Iceland (%): 0.06; Odds ratio for CRC (95%CI): 0.94 (0.22-4.12), 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Haraldsdottir 2018 - - Germline - 0.06, 2/60466 cases - - - Sigurdis Haraldsdottir, BRIDGES consortium
+/+, +/. 2 1 c.37G>T r.(?) p.(Glu13*) InSiGHT pathogenic g.37035075G>T g.36993584G>T g->t at n37 - MLH1_000852 Insight class: 5 InSiGHT, M Nilbert (unpublished) 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
+/+, ?/. 2 1 c.38_39insCCCA r.(?) p.(Glu13Aspfs*19) InSiGHT pathogenic, VUS g.37035076_37035077insCCCA g.36993585_36993586insCCCA - - MLH1_000958 Insight class: 5 InSiGHT, PubMed: Rey 2004 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, ?/. 2 1 c.39_40dup r.(?) p.(Thr14Argfs*4) InSiGHT pathogenic, VUS g.37035077_37035078dup g.36993586_36993587dup - - MLH1_000835 Insight class: 5 InSiGHT - - Germline, SUMMARY record - - - - - Juul Wijnen, InSiGHT - John-Paul Plazzer
-?/. 8 1 c.42A>C r.(?) p.Thr14= - likely benign g.37035080A>C g.36993589A>C - - MLH1_001881 - - - - Germline - - - - - Jack Ji
+/+, +/., ?/. 4 1 c.44dup r.(?) p.(Val16Glyfs*15) InSiGHT pathogenic, VUS g.37035082dup g.36993591dup - - MLH1_000036 Insight class: 5 InSiGHT, PubMed: Mangold 2005, PubMed: Mangold 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Peter Propping, Prof. Dr. med.
?/. 1 - c.44T>C r.(?) p.(Val15Ala) - NA g.37035082T>C - chr3_37035082_T_C - MLH1_002194 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 1 c.46G>A r.(?) p.Val16Met - VUS g.37035084G>A g.36993593G>A - - MLH1_001885 - - - - Germline - - - - - Jack Ji
?/. 2 - c.46G>C r.(?) p.(Val16Leu) - NA g.37035084G>C - chr3_37035084_G_C - MLH1_002195 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 10 1 c.52C>T r.(?) p.(Arg18Cys), p.Arg18Cys - NA, VUS g.37035090C>T g.36993599C>T 52C>T, chr3_37035090_C_T, MLH1(NM_000249.3):c.52C>T (p.R18C) - MLH1_001887 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 6/53461 controls, 8/60466 cases - - - Thomas Hansen, VKGL-NL_VUmc, Jack Ji, BRIDGES consortium
+/+, +/., ?/. 3 1 c.52del r.(?) p.(Arg18Alafs*18) InSiGHT pathogenic, VUS g.37035090del g.36993599del MLH1(NM_000249.3):c.52delC (p.R18Afs*18) - MLH1_000961 VKGL data sharing initiative Nederland, Insight class: 5 InSiGHT, PubMed: Kim 2001 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, VKGL-NL_NKI
+/+, +/., +?/+, -/., ?/+, ?/. 11 1 c.55A>T r.(?) p.(Ile19Phe) InSiGHT benign, likely pathogenic, pathogenic, VUS g.37035093A>T g.36993602A>T I19F - MLH1_000038 PALB2 PATH, Insight class: 5, {GR:478} InSiGHT, PubMed: Andrew 2002, PubMed: Chao 2008, PubMed: Kurzawski 2002 - - Germline, Germline/De novo (untested), SUMMARY record, Unknown - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons, Amie Blanco
?/. 1 1 c.58G>A r.(?) p.Ala20Thr - VUS g.37035096G>A g.36993605G>A - - MLH1_001893 - - - - Germline - - - - - Jack Ji
+/+, +/., ?/. 4 1 c.61del r.(?) p.(Ala21Argfs*15) InSiGHT pathogenic, VUS g.37035099del g.36993608del del G at 63 - MLH1_000962 Insight class: 5 InSiGHT, PubMed: Kim 2001, PubMed: Moslein 1996 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+?/. 1 1 c.61G>C r.(?) p.(Ala21Pro) ACGS likely pathogenic g.37035099G>C - - - MLH1_002417 - - - - Germline - - - - - Joanne Field
+/+, ?/. 2 1 c.62C>A r.(?) p.(Ala21Glu) InSiGHT pathogenic, VUS g.37035100C>A g.36993609C>A - - MLH1_000930 Insight class: 5 InSiGHT, PubMed: Hardt 2011 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Beate Dr. Betz
+/+, +/., +?/., -/., ?/. 11 1 c.62C>T r.(?) p.(Ala21Val) InSiGHT benign, likely pathogenic, pathogenic, VUS g.37035100C>T g.36993609C>T A21V, Missense - MLH1_000040 Insight class: 5, {GR:479} InSiGHT, PubMed: Cederquist 2004, PubMed: Lagerstedt-Robinson 2016, PubMed: Cederquist 2004, 3 more items - - Germline, SUMMARY record, Unknown - - - - - Kristina Lagerstedt Robinson, InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons
+/., -/-, -/., -?/., ?/. 21 1 c.65G>C r.(?) p.(Gly22Ala), p.Gly22Ala InSiGHT benign, likely benign, NA, pathogenic, VUS g.37035103G>C g.36993612G>C chr3_37035103_G_C, G22A, MLH1(NM_000249.3):c.65G>C (p.G22A) - MLH1_001732 Carrier frequency in Iceland (%): 0.07; Odds ratio for CRC (95%CI): 0.78 (0.33-1.88), Insight class: 1, 4 more items InSiGHT, Mensenkamp and Ligtenberg, PubMed: Barnetson 2008, PubMed: Chao 2008, PubMed: Fearnhead 2004, 4 more items - - CLASSIFICATION record, Germline, SUMMARY record, Unknown - 0.07, 2/1051 controls, 33/60466 cases, 39/53461 controls - - - Ans M.W. van den Ouweland, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Rolf Sijmons, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, Sigurdis Haraldsdottir, Jack Ji, BRIDGES consortium
-?/. 1 1 c.65G>T r.(?) p.(Gly22Val) - likely benign g.37035103G>T g.36993612G>T - - MLH1_002420 - - - - Germline/De novo (untested) - gnomAD 0.04% het European (non-Finnish); not on gnomAD - - - Treena Cranston
+/+, +/., ?/. 5 1 c.67del r.(?) p.(Glu23Lysfs*13) InSiGHT pathogenic, VUS g.37035105del g.36993614del 63delG p.Ala21fs., del G at 67 - MLH1_000042 In vitro functional MMR analysis revealed a deficiency in MMR function., Insight class: 5 InSiGHT, Myriad et al.,, PubMed: Kurzawski 2006, PubMed: Mao 2008, PubMed: Nilbert 2008 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+/., ?/., ?/? 4 1 c.67G>A r.(?) p.(Glu23Lys) InSiGHT pathogenic, VUS g.37035105G>A g.36993614G>A E23K - MLH1_000043 Insight class: 3, {GR:521} InSiGHT, PubMed: Chao 2008, PubMed: Wolf 2005 - - Germline, SUMMARY record, Unknown - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Rolf Sijmons
+/+, +/., ?/. 7 1 c.67G>T r.(?), r.[66_116del, 67g>u] p.(Glu23Ter), p.[Glu23*, Glu23_Cys39del] InSiGHT pathogenic, VUS g.37035105G>T g.36993614G>T 67G->T, G->T at 67, 1 more item - MLH1_001455 VKGL data sharing initiative Nederland, Insight class: 5 InSiGHT, Norbury (unpublished), PubMed: Baehring 2006, PubMed: Kruger 2002, PubMed: Mangold 2005 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Rodney Scott, VKGL-NL_Nijmegen
+/+, ?/. 2 1 c.68_78del r.(?) p.(Glu23Alafs*4) InSiGHT pathogenic, VUS g.37035106_37035116del g.36993615_36993625del Exon 1 68_78del11bps p.Glu23Alafs*4  - MLH1_001650 Insight class: 5 InSiGHT, Desiree du Sart - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
+/., +?/., -/., ?/., ?/? 14 1 c.69A>T r.(?) p.(Glu23Asp) InSiGHT benign, NA, pathogenic, VUS g.37035107A>T g.36993616A>T E23D - MLH1_000046 Insight class: 3, {GR:173}, 1 more item InSiGHT, Myriad et al.,, PubMed: Chao 2008, PubMed: Lastella 2006, PubMed: Takahashi 2007, 1 more item - - Germline, In vitro (cloned), SUMMARY record, Unknown - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Rolf Sijmons
+/+, +/., ?/. 4 1 c.70del r.(?) p.(Val24Leufs*12) InSiGHT pathogenic, VUS g.37035108del g.36993617del - - MLH1_001349 Insight class: 5, {GR:521} InSiGHT, PubMed: Chao 2008, PubMed: Wolf 2005, PubMed: Wolf 2006 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Rolf Sijmons
+/., +?/+?, +?/., -/., ?/. 21 1 c.73A>T r.(?) p.(Ile25Phe) InSiGHT benign, likely pathogenic, NA, pathogenic, VUS g.37035111A>T g.36993620A>T codon 26, I25F, I26F - MLH1_000048 Insight class: 4, {GR:174}, 2 more items InSiGHT, PubMed: Chao 2008, PubMed: Lastella 2006, PubMed: Lucci-Cordisco 2006, PubMed: Raschle 2002, 5 more items - - Germline, In vitro (cloned), SUMMARY record, Unknown - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Rolf Sijmons
+/+, +/., ?/. 6 1 c.73del r.(?) p.(Ile25Serfs*11) InSiGHT pathogenic, VUS g.37035111del g.36993620del del A at 73 - MLH1_000049 Insight class: 5 InSiGHT, Krepelova (unpublished), PubMed: Lamberti 1999, PubMed: Mangold 2005, PubMed: Wehner 1997 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med.
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