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Gene ATM
Variant P1069fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM P1069fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1069 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). P1069fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1069 (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 P1069fs

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Transcript NM_000051.4
gDNA chr11:g.(108272772_108272773)
cDNA c.(3205_3204)
Protein p.P1069fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.4 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM P1069fs ATM LOH salivary gland adenoid cystic carcinoma predicted - sensitive Ceralasertib + Olaparib Case Reports/Case Series Actionable In a Phase II trial (OLAPCO), Ceralasertib (AZD6738) and Lynparza (olaparib) combination treatment resulted in an ongoing 22% reduction in target lesions in a patient with adenoid cystic carcinoma of minor salivary gland harboring germline ATM P1069fs with accompanying loss of heterozygosity (LOH), who remained on treatment for over 26 months (PMID: 34527850; NCT02576444). 34527850