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.

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

Curation:
Currentness:

ATM P872S

(ATM Pro872Ser)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • 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)

Publications
 

Genomes
 

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

 

Other external references
 

    dbSNP
  • rs3218673
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 ...
    scmgc.cmo.washington.edu/GeneModels/ATM_alignment.htm
  • Supplemental Data
    Supplemental Tables and Supplemental ATM Protein Multiple Sequence Alignment ... File S1, which is an ATM protein multiple sequence alignment in FASTA format. ...
    download.cell.com/AJHG/.../PIIS0002929709003966.mmc1.doc

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in