Gene Variant Detail

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Gene MLH1
Variant F530Lfs*5
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 F530Lfs*5 indicates a shift in the reading frame starting at amino acid 530 and terminating 5 residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). Due to the loss of the C-terminal domain (PMID: 22753075, PMID: 16338176), F530Lfs*5 is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance

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Transcript NM_000249.3
gDNA chr3:g.37040217delC
cDNA c.1590delC
Protein p.F530Lfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37040217delC c.1590delC p.F530Lfs*5 RefSeq GRCh38/hg38
NM_000249 chr3:g.37040217delC c.1590delC p.F530Lfs*5 RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37040217delC c.1590delC p.F530Lfs*5 RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37040217delC c.1590delC p.F530Lfs*5 RefSeq GRCh38/hg38
NM_001258271 chr3:g.37040217delC c.1590delC p.F530Lfs*5 RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37040217delC c.1590delC p.F530Lfs*5 RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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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 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...
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 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 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...
Molecular Profile Protein Effect Treatment Approaches
MLH1 F530Lfs*5 loss of function - predicted