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Gene MLH1
Variant H112D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 H112D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). H112D retains ATPase activity in in vitro analyses (PMID: 17135187, PMID: 29544212) leading to functional subcellular localization, recruitment to double strand breaks, ability to suppress interstitial telomeric sequences and genomic instability (PMID: 29544212) and retains binding to Pms2 but impairs interaction with Msh2-Msh6-DNA complex in culture and leads to loss of mismatch repair activity (MMR) in an in vitro analysis in one study (PMID: 17135187), but in another results in normal expression of Pms2 and Mlh1 and MMR activity comparable to wild-type in culture (PMID: 36054288), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 H112D

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Transcript NM_000249.4
gDNA chr3:g.37004428C>G
cDNA c.334C>G
Protein p.H112D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37004428C>G c.334C>G p.H112D RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37004428C>G c.334C>G p.H112D RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37004428C>G c.334C>G p.H112D RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37004428C>G c.334C>G p.H112D RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37004428C>G c.334C>G p.H112D RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 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...
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 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...