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 L2492R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM L2492R lies within the FAT domain of the Atm protein (UniProt.org). L2492R has been identified in sequencing studies (PMID: 29449575, PMID: 30181556, PMID: 33151258), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM L2492R

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"

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_000051.3
gDNA chr11:g.108330381T>G
cDNA c.7475T>G
Protein p.L2492R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542844.3 chr11:g.108345842_108345843delTTinsAG c.7474_7475delTTinsAG p.L2492R RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_011542843 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_005271561 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_005271562 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_011542844 chr11:g.108345842_108345843delTTinsAG c.7474_7475delTTinsAG p.L2492R RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_011542840 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
NM_000051 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_006718843 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_017017790 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_017017789 chr11:g.108330381T>G c.7475T>G p.L2492R RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108330381T>G c.7475T>G p.L2492R 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"

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 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 predicted - sensitive 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 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...