Gene Variant Detail

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Gene ATM
Variant S1455R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM S1455R does not lie within any known functional domains of the Atm protein (UniProt.org). S1455R confers a loss of function to the Atm protein as demonstrated by impaired phosphorylation of p53 and Chek2 in cultured cells (PMID: 12969974) and partial inability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S1455R

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Transcript NM_000051.3
gDNA chr11:g.108289730T>G
cDNA c.4365T>G
Protein p.S1455R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017792.2 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_005271562 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_005271561 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_017017791 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_011542845 chr11:g.108304849_108304850delTCinsAG c.4363_4364delTCinsAG p.S1455R RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_017017789 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_011542840 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_006718843 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
NM_000051 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_011542845.2 chr11:g.108304849_108304850delTCinsAG c.4363_4364delTCinsAG p.S1455R RefSeq GRCh38/hg38
XM_011542843 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_017017790 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_017017792 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108289730T>G c.4365T>G p.S1455R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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  • 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 S1455R neuroblastoma sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment of neuroblastoma cells in culture, transfected with Atm S1455R, resulted in decreased cell viability as compared to cells carrying wild-type Atm (PMID: 29059438). 29059438