Gene Variant Detail

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Gene MLH1
Variant L550I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 L550I lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L550I has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2021).
Associated Drug Resistance

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Transcript NM_000249.3
gDNA chr3:g.37040275C>A
cDNA c.1648C>A
Protein p.L550I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.1 chr3:g.37040275C>A c.1648C>A p.L550I RefSeq GRCh38/hg38
NM_001258271 chr3:g.37040275C>A c.1648C>A p.L550I RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37040275C>A c.1648C>A p.L550I RefSeq GRCh38/hg38
NM_000249 chr3:g.37040275C>A c.1648C>A p.L550I RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37040275C>A c.1648C>A p.L550I RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37040275C>A c.1648C>A p.L550I 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 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 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 L550I unknown