Gene Variant Detail

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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

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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_001258271.2 chr3:g.36996639G>T c.137G>T p.S46I RefSeq GRCh38/hg38
NM_001354628.2 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_001354630.2 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
NM_001354629.2 chr3:g.36996639G>T c.137G>T p.S46I 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 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 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 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 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 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...