ATM P292L - Gene Variant Detail

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Gene ATM
Variant P292L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM P292L does not lie within any known functional domains of the Atm protein (UniProt.org). P292L confers a loss of function to Atm as demonstrated by decreased protein expression, reduced phosphorylation of Atm and downstream targets, and impaired G2/M checkpoint in response to irradiation in culture (PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM P292L

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Transcript NM_000051.4
gDNA chr11:g.108245000C>T
cDNA c.875C>T
Protein p.P292L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047426981.1 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_006718843 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017789 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017792 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_005271562 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_005271561 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_011542843 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017791 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017790 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_011542840 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
NM_000051 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108245000C>T c.875C>T p.P292L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 P292L 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 P292L, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). detail... 32343890 detail...