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Gene MLH1
Variant V213M
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 V213M lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). V213M results in decreased Mlh1 and Pms2 expression but demonstrates functional mismatch repair activity in culture (PMID: 36054288) and in in vitro assays, and functional Pms2 interaction in in vitro assays (PMID: 17510385, PMID: 16083711, PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 V213M

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Transcript NM_000249.4
gDNA chr3:g.37012059G>A
cDNA c.637G>A
Protein p.V213M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001258271 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_000249 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
XM_005265161 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MLH1 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of ovarian 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 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 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 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...
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...