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 S49C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM S49C does not lie within any known functional domains of the Atm protein (UniProt.org). S49C retains the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), results in similar cell survival upon treatment with DNA damaging agents to wild-type Atm, and retains the ability to phosphorylate some Atm targets, but leads to decreased phosphorylation of the Atm target CDC25A, and decreased HDR activity in cultured cells (PMID: 35354106), and therefore, its effect on Atm protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM S49C

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.108227849C>G
cDNA c.146C>G
Protein p.S49C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017789.2 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_006718843 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_005271562 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_017017791 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_017017790 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542842 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542840 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_047426977.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_001351836.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542842.4 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_017017792 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_001351835.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_001351835.2 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_017017789 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_005271561 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_000051 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
NM_001351836.2 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_011542843 chr11:g.108227849C>G c.146C>G p.S49C RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108227849C>G c.146C>G p.S49C 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 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 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 ovarian cancer not applicable N/A Guideline Risk Factor Germline ATM mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...
ATM mutant lung non-small cell carcinoma predicted - sensitive M1774 Preclinical - Cell line xenograft Actionable In a preclinical study, M1774 inhibited tumor growth in a cell line xenograft model of non-small cell lung cancer harboring an ATM mutation (PMID: 38407317). 38407317
ATM mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline ATM mutations are associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
ATM mutant breast cancer not applicable N/A Guideline Risk Factor Germline ATM mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
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 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, 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...
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...