Gene Variant Detail

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Gene ATR
Variant C347*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATR C347* results in a premature truncation of the Atr protein at amino acid 347 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), C347* is predicted to lead to a loss of Atr protein function.
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR inact mut ATR C347*

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Transcript NM_001184.4
gDNA chr3:g.142562361G>T
cDNA c.1041C>A
Protein p.C347*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047448362.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512925.2 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001184 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_017006643 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512926 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512925.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001354579.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512925 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512924 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001354579.2 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATR inact mut prostate cancer sensitive Enzalutamide + Talazoparib FDA approved Actionable In a Phase III trial (TALAPRO-2) that supported FDA approval, Talzenna (talazoparib) plus Xtandi (enzalutamide) improved median radiographic progression-free survival compared to enzalutamide plus placebo (27.9 vs 16.4 mo, HR 0.46, p=0.0003) in patients with metastatic castration-resistant prostate cancer harboring deficient homologous recombination repair genes including ATR, with an HR of 0.66 (p=0.12) in patients with non-BRCA mutations treated with Talzenna (talazoparib) (PMID: 37285865; NCT03395197). detail... 37285865
ATR inact mut prostate cancer sensitive Enzalutamide + Talazoparib Guideline Actionable Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATR mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org). detail...