|(A;A)||0||common in clinvar|
[PMID 20056646] Population-based study of the association of variants in mismatch repair genes with prostate cancer risk and outcomes
[PMID 20149637] Common variants in human CRC genes as low-risk alleles
|Disease||Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome Lynch syndrome I|
|CLNDBN||Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome Lynch syndrome I|
|CLNSRC||International Society for Gastrointestinal Hereditary Tumours Inc. Children's Hospital of Eastern Ontario HGMD UniProtKB (protein)|
|CLNACC||RCV000075795.2, RCV000030230.3, RCV000034548.1, RCV000035355.10, RCV000131385.3, RCV000144603.1,|
[PMID 17119116] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 17870204] Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population.
[PMID 18523027] Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18723338] Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19389263] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.
[PMID 19781088] Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.
[PMID 19930554] Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
[PMID 20063070] Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.
[PMID 20805886] Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.
[PMID 20860725] MLH1 Differential allelic expression in mutation carriers and controls.
[PMID 21156845] The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.
[PMID 12624141] Cancer risk in 348 French MSH2 or MLH1 gene carriers.
[PMID 17374836] MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
[PMID 19203531] Modulation of the efficacy of temozolomide and dacarbazine melanoma treatment by DNA-repair factors in vivo and in vitro.
|qualified_impact||Low clinical importance, Uncertain benign|
|summary||Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.|
[PMID 23755158] Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility
[PMID 25986311] Association between MutL homolog 1 polymorphisms and the risk of colorectal cancer: a meta-analysis
[PMID 26103898] Allele Quantification Pyrosequencing(®) at Designated SNP Sites to Detect Allelic Expression Imbalance and Loss-of-Heterozygosity