Gene Variant Detail

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Gene MLH1
Variant T45_I47delinsCF
Impact List indel
Protein Effect loss of function
Gene Variant Descriptions MLH1 T45_I47delinsCF results in a deletion of three amino acids within the ATPase domain of the Mlh1 protein (PMID: 22753075) from aa 45 to aa 47, combined with the insertion of an cysteine (C) and a phenylalanine (F) at the same site. T45_I47delinsCF confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay, altered subcellular localization, and reduced protein expression as compared to wild-type (PMID: 21120944).
Associated Drug Resistance

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Transcript NM_000249.3
gDNA chr3:g.36996635_36996643delinsTGTTTT
cDNA c.133_141delinsTGTTTT
Protein p.T45_I47delinsCF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
XM_005265161 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001258271 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MLH1 inact mut colorectal cancer not applicable N/A Preclinical Emerging In a preclinical study, MLH1 inactivation through hypermethylation was associated with high microsatellite instability (MSI-H) colorectal carcinoma by whole genome sequencing of tumor samples (PMID: 22810696), suggesting it may be a potential biomarker. 22810696
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 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...
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...
Molecular Profile Protein Effect Treatment Approaches
MLH1 T45_I47delinsCF loss of function