ATM P872S - 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.

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(ATM Pro872Ser)

Short summary


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


Insufficiently evaluated not reviewed

(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

  • T @ chr11:108138045: 1.6% (173/10758) in EVS
  • T @ chr11:107643254: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (173/10758)



GS18517 - var-GS18517-1100-36-ASM
het T @ chr11:107643255


Other external references

  • rs3218673
    Web search results (2 hits -- see all)
  • ATM Alignment
    ATM Human and Mouse Protein Sequence Alignment. R45W. Human: 1 ... F858N P872S. Human: 841 DTNG----NLMEVEDQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLL 896. D ...
  • Supplemental Data
    Supplemental Tables and Supplemental ATM Protein Multiple Sequence Alignment ... File S1, which is an ATM protein multiple sequence alignment in FASTA format. ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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