Gene Variant Detail

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Gene MLH1
Variant V612del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 V612del 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 612 (PMID: 22753075). V612del results in altered subcellular localization and reduced protein expression as compared to wild-type (PMID: 21120944), 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.37047622_37047624delTTG
cDNA c.1835_1837delTTG
Protein p.V612delV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265161 chr3:g.37048955_37048957delGCT c.1834_1836delGCT p.A612delA RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37048915_37048917delCGA c.1836_1838delCGA p.D612delD RefSeq GRCh38/hg38
NM_001167617 chr3:g.37050510_37050512delAAC c.1834_1836delAAC p.N612delN RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37050510_37050512delAAC c.1834_1836delAAC p.N612delN RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37048553_37048555delAAC c.1834_1836delAAC p.N612delN RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37048955_37048957delGCT c.1834_1836delGCT p.A612delA RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37050510_37050512delAAC c.1834_1836delAAC p.N612delN RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV RefSeq GRCh38/hg38
NM_000249 chr3:g.37047622_37047624delTTG c.1835_1837delTTG p.V612delV 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 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 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 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...
Molecular Profile Protein Effect Treatment Approaches
MLH1 V612del loss of function - predicted