ATM R3047X - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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ATM R3047X

(ATM Arg3047Stop)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

    Web search results (4 hits -- see all)
  • Blood -- Recurrent ATM mutations in T-PLL on diverse ...
    Recurrent ATM mutations in T-PLL on diverse haplotypes: no support for their germline ... nonsense transition 9139C>T (R3047X) found in different populations.8, ...
  • Table S1
    ATM-09. gcctgattcgagatcctgaaacaat. gaatacctaaaaacagcatcccaattcaa. ccttgtttggaatctg ... ATM mutations identified in 5 or more AT patients more than one population group ...
  • for their germline origin mutations in T-PLL on diverse ...
    ATM mutations in T-PLL on diverse haplotypes: no support for their ... 9139C T (R3047X) found in different populations. 8,9,14-16. The ATM mutations have been ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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