ATM R3047X - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ATM R3047X

(ATM Arg3047Stop)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

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, ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../1517
  • Table S1
    ATM-09. gcctgattcgagatcctgaaacaat. gaatacctaaaaacagcatcccaattcaa. ccttgtttggaatctg ... ATM mutations identified in 5 or more AT patients more than one population group ...
    lpg.nci.nih.gov/struewing/pubs/atm/stredrick_supp_mat.pdf
  • 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 ...
    bloodjournal.hematologylibrary.org/cgi/reprint/97/5/1517.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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