ATM D2708N - Gene Variant Detail

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Gene ATM
Variant D2708N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM D2708N does not lie within any known functional domains of the Atm protein (UniProt.org). D2708N results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188), 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 D2708N

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Transcript NM_000051.4
gDNA chr11:g.108335080G>A
cDNA c.8122G>A
Protein p.D2708N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.1 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_011542843 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_006718843 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_011542840 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_005271562 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_017017790 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_017017789 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_005271561 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38
NM_000051 chr11:g.108335080G>A c.8122G>A p.D2708N RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM D2708N 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 D2708N, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). detail... 32343890 detail...