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Gene MLH1
Variant A42V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 A42V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of A42V is conflicting as it results in decreased mismatch repair (MMR) activity in a yeast assay (PMID: 15475387), reduced Pms2 and Mlh1 expression and altered splicing, but leads to normal MMR activity in culture (PMID: 36054288).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 A42V

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Transcript NM_000249.4
gDNA chr3:g.36996627C>T
cDNA c.125C>T
Protein p.A42V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 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...