{{Rsnum
|rsid=1799977
|Gene=MLH1
|Chromosome=3
|position=37012077
|Orientation=plus
|GMAF=0.1717
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MLH1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 42.5 | 46.0 | 11.5
| HCB | 94.2 | 5.8 | 0.0
| JPT | 88.5 | 11.5 | 0.0
| YRI | 95.2 | 4.1 | 0.7
| ASW | 71.9 | 26.3 | 1.8
| CHB | 94.2 | 5.8 | 0.0
| CHD | 95.4 | 4.6 | 0.0
| GIH | 74.3 | 23.8 | 2.0
| LWK | 90.9 | 7.3 | 1.8
| MEX | 77.6 | 17.2 | 5.2
| MKK | 92.3 | 7.1 | 0.6
| TSI | 37.3 | 51.0 | 11.8
| HapMapRevision=28
}}{{PMID Auto
|PMID=19665066
|Title=A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer
}}

{{PMID Auto
|PMID=20056646
|Title=Population-based study of the association of variants in mismatch repair genes with prostate cancer risk and outcomes
|OA=1
}}

{{PMID Auto
|PMID=20149637
|Title=Common variants in human CRC genes as low-risk alleles
}}

{{ClinVar
|rsid=1799977
|Reversed=0
|FwdREF=A
|FwdALT=C,G
|REF=A
|ALT=C,G
|RSPOS=37053568
|CHROM=3
|GMAF=0.1712
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05036800000015051f100101
|GENEINFO=MLH1:4292
|GENE_NAME=MLH1
|GENE_ID=4292
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000003.11:g.37053568A>C; NC_000003.11:g.37053568A>G
|CLNSRC=InSiGHT; Emory University
|CLNORIGIN=1
|CLNSIG=2
|CLNCUI=
|CLNDBN=Lynch syndrome; not provided; AllHighlyPenetrant
|Disease=Lynch syndrome; not provided; AllHighlyPenetrant
|CLNACC=
RCV000075795.1; RCV000030230.2; RCV000034548.1; RCV000035355.2
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.8283; 0.1717
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT; MedGen
|CLNDSDBID=NBK1211:C0009405:315058005; CN169374
|COMMON=1
|CLNSRCID=c.655A>C; 3256; c.655A>G
}}

{{PMID Auto
|PMID=17119116
|Title=Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
|OA=1
}}

{{PMID Auto
|PMID=17267408
|Title=Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
|OA=1
}}

{{PMID Auto
|PMID=17870204
|Title=Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population.
}}

{{PMID Auto
|PMID=18523027
|Title=Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.
|OA=1
}}

{{PMID Auto
|PMID=18701435
|Title=Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18723338
|Title=Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
}}

{{PMID Auto
|PMID=19029193
|Title=Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19389263
|Title=Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.
|OA=1
}}

{{PMID Auto
|PMID=19781088
|Title=Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.
|OA=1
}}

{{PMID Auto
|PMID=19930554
|Title=Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
|OA=1
}}

{{PMID Auto
|PMID=20063070
|Title=Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.
}}

{{PMID Auto
|PMID=20805886
|Title=Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.
|OA=1
}}

{{PMID Auto
|PMID=20860725
|Title=MLH1 Differential allelic expression in mutation carriers and controls.
}}

{{PMID Auto
|PMID=21156845
|Title=The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.
}}

{{PMID Auto
|PMID=12624141
|Title=Cancer risk in 348 French MSH2 or MLH1 gene carriers.
|OA=1
}}

{{PMID Auto
|PMID=17374836
|Title=MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
}}

{{PMID Auto
|PMID=19203531
|Title=Modulation of the efficacy of temozolomide and dacarbazine melanoma treatment by DNA-repair factors in vivo and in vitro.
}}

{{GET Evidence
|gene=MLH1
|aa_change=Ile219Val
|aa_change_short=I219V
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs1799977
|overall_frequency_n=2580
|overall_frequency_d=10758
|overall_frequency=0.239822
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=32
|n_articles=8
|n_articles_annotated=6
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=0
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_severity=0
|qualitycomment_severity=Y
|qualityscore_treatability=0
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|pph2_score=0.003
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|max_or_disease_name=MLH1-Related Hereditary Non-Polyposis Colon Cancer
|max_or_case_pos=16
|max_or_case_neg=144
|max_or_control_pos=9
|max_or_control_neg=141
|max_or_or=1.741
|autoscore=3
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}