Gene Variant Detail

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@jax.org

Gene ATM
Variant E848Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM E848Q does not lie within any known functional domains of the Atm protein (UniProt.org). E848Q has been identified in the scientific literature (PMID: 27602502), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2023).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM E848Q

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.108267246G>C
cDNA c.2542G>C
Protein p.E848Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_005271562 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_005271561 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017791 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017790 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017792 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
NM_000051 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_011542843 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_011542840 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017789 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108267246G>C c.2542G>C p.E848Q RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108267246G>C c.2542G>C p.E848Q 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 mutant mantle cell lymphoma predicted - sensitive Ibrutinib + Venetoclax Phase II Actionable In a Phase II trial (AIM), distinct molecular profiles were identified in mantle cell lymphoma patients responded to Imbruvica (ibrutinib) and Venclexta (venetoclax) combination therapy compared to those did not respond, with all patients harboring mutations in NSD2 (n=4), UBR5 (n=3), KMT2D (n=3), and 12 of 13 patients harboring mutations in ATM responded to the therapy, while SMARCA4 (n=4), CCND1 (n=2), and NOTCH1 (n=3) alterations were exclusively observed in nonresponders (PMID: 30455436; NCT02471391). 30455436
ATM mutant prostate cancer sensitive Olaparib Phase II Actionable In a Phase II clinical trial, 80% (4/5) of metastatic castration-resistant prostate cancer patients with ATM truncation mutations demonstrated response to Lynparza (olaparib) treatment (Cancer Res August 1, 2015 75:CT322). detail...
ATM mutant prostate cancer not applicable N/A Guideline Risk Factor Germline ATM mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
ATM mutant breast cancer no benefit Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in 4 patients with metastatic breast cancer harboring only germline mutations in ATM (PMID: 33119476; NCT03344965). 33119476
ATM mutant Advanced Solid Tumor conflicting Olaparib Phase II Actionable In a Phase II trial (TAPUR), Lynparza (olaparib) treatment resulted in an objective response rate of 8% and a disease control rate of 25% (9/36, 1 complete response, 2 partial responses, 6 stable disease at 16+ weeks) in patients with advanced solid tumors harboring ATM mutations (Cancer Res 2022;82(12_Suppl):Abstract nr CT110; NCT02693535). detail...
ATM mutant Advanced Solid Tumor conflicting Olaparib Phase II Actionable In a Phase II trial, Lynparza (olaparib) treatment did not demonstrate clinical activity in patients with advanced solid tumors harboring ATM (n=13) or CHEK2 (n=14) mutations (Ann Oncol (2023) 34 (suppl_2): S242; NCT03967938). detail...