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Gene | MLH1 |
Variant | S46I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 S46I lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S46I results in decreased interaction with Pms2 in a yeast assay but Pms2 binding comparable to wild-type in cell culture (PMID: 18094436), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 S46I |
Transcript | NM_000249.4 |
gDNA | chr3:g.36996639G>T |
cDNA | c.137G>T |
Protein | p.S46I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354628.2 | chr3:g.36996639G>T | c.137G>T | p.S46I | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.36996639G>T | c.137G>T | p.S46I | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.36996639G>T | c.137G>T | p.S46I | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.36996639G>T | c.137G>T | p.S46I | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.36996639G>T | c.137G>T | p.S46I | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.36996639G>T | c.137G>T | p.S46I | RefSeq | GRCh38/hg38 |
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 | 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 | 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 | 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 | 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... |