ATM R2227C
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene ATM
Variant R2227C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R2227C lies within the FAT domain of the Atm protein (UniProt.org). R2227C results in reduced Atm protein expression, loss of Atm autophosphorylation and Smc1 phosphorylation, and intermediate radiosensitivity of cultured cells (PMID: 18634022), 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 R2227C

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.

Transcript NM_000051.4
gDNA chr11:g.108325416C>T
cDNA c.6679C>T
Protein p.R2227C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.2 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108325416C>T c.6679C>T p.R2227C 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 R2227C 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 R2227C, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). detail... 32343890 detail...