Gene Variant Detail

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Gene RAD54L
Variant F82S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD54L F82S does not lie within any known functional domains of the Rad54l protein (UniProt.org). F82S results in loss of Rad51 binding ability when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), and therefore, is predicted to lead to a loss of Rad54l protein function.
Associated Drug Resistance
Category Variants Paths

RAD54L mutant RAD54L inact mut RAD54L F82S

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Transcript NM_001142548.2
gDNA chr1:g.46258720T>C
cDNA c.245T>C
Protein p.F82S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001142548.1 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_003579 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_001142548.2 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_001142548 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_003579.4 chr1:g.46258720T>C c.245T>C p.F82S 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
RAD54L inact mut prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in metastatic castration-resistant prostate cancer patients harboring deleterious or suspected deleterious mutations in homologous recombination repair genes who progressed on hormone therapy, HR for progression or death was 0.33 in RAD54L-mutant patients (PMID: 32343890; NCT02987543). detail... detail... 32343890
RAD54L inact mut prostate cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in RAD54L (NCCN.org). detail...