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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 |
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_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 |
NM_000249.3 | 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 |
NM_000249 | chr3:g.37012059G>A | c.637G>A | p.V213M | RefSeq | GRCh38/hg38 |
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_001354630.2 | 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 |
XM_005265161 | 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_001258271.2 | 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 |
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 | 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 | 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 | 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 | 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 | 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... |