Gene Variant Detail

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Gene MLH1
Variant K616del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 K616del results in the deletion of an amino acid within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein at amino acid 616 (PMID: 22753075). K616del results in altered subcellular localization, reduced protein expression as compared to wild-type (PMID: 21120944), and reduced interaction with Pms2 and Exo1 in a yeast two-hybrid assay (PMID: 12810663), and therefore, is predicted to result in a loss of Mlh1 protein function.
Associated Drug Resistance

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Transcript NM_000249.3
gDNA chr3:g.37047639_37047641delAAG
cDNA c.1852_1854delAAG
Protein p.K618delK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001167617 chr3:g.37050522_37050524delTGG c.1846_1848delTGG p.W616delW RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047639_37047641delAAG c.1852_1854delAAG p.K618delK RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37048565_37048567delCCT c.1846_1848delCCT p.P616delP RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37048967_37048969delTCC c.1846_1848delTCC p.S616delS RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37048925_37048927delGAA c.1846_1848delGAA p.E616delE RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047639_37047641delAAG c.1852_1854delAAG p.K618delK RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047639_37047641delAAG c.1852_1854delAAG p.K618delK RefSeq GRCh38/hg38
XM_005265161 chr3:g.37048967_37048969delTCC c.1846_1848delTCC p.S616delS RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37050522_37050524delTGG c.1846_1848delTGG p.W616delW RefSeq GRCh38/hg38
NM_000249 chr3:g.37047639_37047641delAAG c.1852_1854delAAG p.K618delK RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37050522_37050524delTGG c.1846_1848delTGG p.W616delW RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047639_37047641delAAG c.1852_1854delAAG p.K618delK 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 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...
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 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 K616del loss of function - predicted