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Gene ATM
Variant Q1970*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM Q1970* results in a premature truncation of the Atm protein at amino acid 1970 of 3056 (UniProt.org). Q1970* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1970 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM Q1970*

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Transcript NM_000051.4
gDNA chr11:g.108310305C>T
cDNA c.5908C>T
Protein p.Q1970*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017789.2 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108310305C>T c.5908C>T p.Q1970* RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM Q1970* breast ductal carcinoma predicted - sensitive PLX038 + Rucaparib Case Reports/Case Series Actionable In a clinical trial, PLX038 and Rubraca (rucaparib) combination treatment resulted in a complete response within the first treatment cycle, followed by PLX038 monotherapy, which resulted in maintenance of tumor suppression for a total of 12 months in a patient with metastatic breast ductal carcinoma harboring germline ATM Q1970* (PMID: 35999657; NCT04209595). 35999657