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Gene MLH1
Variant A589D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 A589D lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of A589D is conflicting, as it has been reported to result in a loss of mismatch repair activity in one study (PMID: 20020535), but in another study to have proficient mismatch repair activity in in vitro assays (PMID: 16083711), and demonstrates altered subcellular localization and reduced protein expression compared to wild-type Mlh1 (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 A589D

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Transcript NM_000249.4
gDNA chr3:g.37047553C>A
cDNA c.1766C>A
Protein p.A589D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_000249 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047553C>A c.1766C>A p.A589D RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047553C>A c.1766C>A p.A589D 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 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 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 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 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 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 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...