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Gene CHEK2
Variant L512V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CHEK2 L512V does not lie within any known functional domains of the Chek2 protein (UniProt.org). L512V results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to have no effect on Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 L512V

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Transcript NM_007194.4
gDNA chr22:g.28689143G>C
cDNA c.1534C>G
Protein p.L512V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441104.1 chr22:g.28694052A>C c.1534T>G p.L512V RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28689143G>C c.1534C>G p.L512V RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28689185G>C c.1534C>G p.L512V RefSeq GRCh38/hg38
NM_007194 chr22:g.28689143G>C c.1534C>G p.L512V RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28689143G>C c.1534C>G p.L512V RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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
CHEK2 mutant breast cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
CHEK2 mutant Advanced Solid Tumor no benefit Olaparib Phase II Actionable In a Phase II trial, Lynparza (olaparib) treatment did not demonstrate clinical activity in patients with advanced solid tumors harboring ATM (n=13) or CHEK2 (n=14) mutations (Ann Oncol (2023) 34 (suppl_2): S242; NCT03967938). detail...
CHEK2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
CHEK2 mutant breast cancer no benefit Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in 7 patients with metastatic breast cancer harboring only germline mutations in CHEK2 (PMID: 33119476; NCT03344965). 33119476