Gene Variant Detail

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Gene RAD54L
Variant L381Cfs*8
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD54L L381Cfs*8 indicates a shift in the reading frame starting at amino acid 381 and terminating eight residues downstream causing a premature truncation of the 747 amino acid Rad54l protein (UniProt.org). Due to loss of the C-terminal helicase domain (UniProt.org), L381Cfs*8 is predicted to lead to a loss of Rad54l protein function.
Associated Drug Resistance
Category Variants Paths

RAD54L mutant RAD54L inact mut RAD54L L381Cfs*8

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Transcript NM_001142548.2
gDNA chr1:g.46270757delC
cDNA c.1141delC
Protein p.L381Cfs*8
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001142548.1 chr1:g.46270757delC c.1141delC p.L381Cfs*8 RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46270757delC c.1141delC p.L381Cfs*8 RefSeq GRCh38/hg38
NM_001142548.2 chr1:g.46270757delC c.1141delC p.L381Cfs*8 RefSeq GRCh38/hg38
NM_003579.4 chr1:g.46270757delC c.1141delC p.L381Cfs*8 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
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...