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ATM R2032K - Gene Variant Detail

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Gene ATM
Variant R2032K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R2032K lies within the FAT domain of the Atm protein (UniProt.org). R2032K results in aberrant splicing of ATM mRNA, leading to skipping of exon 43 (PMID: 9887333), and decreased Atm kinase activity in patient-derived cells (PMID: 36029002), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R2032K

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Transcript NM_000051.4
gDNA chr11:g.108315911G>A
cDNA c.6095G>A
Protein p.R2032K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.2 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_017017789 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542843 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542840 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_005271562 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542844.4 chr11:g.108329070G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_017017791 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_017017790 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
NM_000051 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_005271561 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542844.3 chr11:g.108329070G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_006718843 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108315911G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38
XM_011542844 chr11:g.108329070G>A c.6095G>A p.R2032K RefSeq GRCh38/hg38

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  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM R2032K prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) improved progression-free survival (7.4 vs 3.6 mo, HR 0.34, p<0.001), objective response rate (33% vs 2%, OR 20.86, p<0.001), and median overall survival (18.5 vs 15.1 mo, HR 0.64, p=0.02) over control in metastatic prostate cancer patients harboring inactivating BRCA/ATM mutations as detected by approved assays, including ATM R2032K, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). detail... 32343890 detail...