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Gene MLH1
Variant I219L
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 I219L lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). I219L is a common polymorphism (PMID: 8872463, PMID: 16982745) with activity comparable to wild-type Mlh1, as demonstrated by binding to Pms2 and Exo1 comparable to wild-type in a yeast two hybrid assay (PMID: 12810663), interaction with Pms2 similar to wild-type in culture, sufficient mismatch repair (MMR) activity to provide methylation sensitivity in culture (PMID: 16982745), and MMR activity comparable to wild-type in yeast assays and in an in vitro assay (PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 I219L

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Transcript NM_000249.4
gDNA chr3:g.37012077A>C
cDNA c.655A>C
Protein p.I219L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37012077A>C c.655A>C p.I219L RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MLH1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MLH1 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MLH1 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MLH1 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MLH1 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MLH1 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
MLH1 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org). detail...