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Gene MLH1
Variant N551T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 N551T lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). N551T results in decreased Mlh1 protein stability and expression (PMID: 23403630), and decreased mismatch repair activity in culture in one study (PMID: 31784484), but also demonstrates mismatch repair activity comparable to wild-type Mlh1 in other studies (PMID: 17510385, PMID: 23403630), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 N551T

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Transcript NM_000249.4
gDNA chr3:g.37040279A>C
cDNA c.1652A>C
Protein p.N551T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_001258271 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040279A>C c.1652A>C p.N551T RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37040279A>C c.1652A>C p.N551T 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 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 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 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 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 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 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...