ATM M1040V - GET-Evidence

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

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Curation:
Currentness:

ATM M1040V

(ATM Met1040Val)


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

  • G @ chr11:108143299: 1.3% (141/10758) in EVS
  • G @ chr11:107648508: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (141/10758)

Publications
 

Genomes
 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr11:107648509

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr11:107648509

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr11:107648509

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr11:107648509

 

Other external references
 

    dbSNP
  • rs3092857
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (9 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    Gene. Mutation. GRANTA-519. ATM. p.R2832C. NHL20. ATM. p.M1040V. NHL34. ATM. p.F1463L. TPLL-1a1. ATM ... t1a5. ATM. p.2810del. Samples without Mutations ? 1037788. 1037789. 1037790 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=17299
  • Mendelian Inheritance in Man Document Reader
    They also proposed that ATM may be intimately associated with both p53 and the ... and human ATM itself, are essential in telomere maintenance (Naito et ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+208900
  • Catalogue of Somatic Mutations in Cancer
    p.M1040V(1) Insertions. Position. Mutation(n) No Insertions in Current Selection. Deletions ... Mutation(n) No Other Mutations in Current Selection. Details for ATM. Primary Tissue ...
    sanger.ac.uk/perl/genetics/CGP/...&end=1045&coords=AA:AA
  • Global Analysis of ATM Polymorphism Reveals Significant ...
    ATM, the gene that is mutated in ataxia-telangiectasia, is associated ... In human ATM, 88 variant sites were discovered by denaturing high-performance ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • ATM Alignment
    ATM Human and Mouse Protein Sequence Alignment. R45W. Human: 1 ... M1040V P1054R. Human: 1017 QFLTVIGAFWHLTKERKYIFSVRMALVNCLKTLLEADPYSKWAILNVMGKDFPVNEVFTQ ...
    scmgc.cmo.washington.edu/GeneModels/ATM_alignment.htm
  • OMIM: 607585
    A partial ATM cDNA clone of 5.9 kb identified a 12-kb band on ... ATM protein levels and localization remain constant throughout all stages of the ...
    www.genome.jp/dbget-bin/www_bget?mim:607585
  • 疾病与基因 - 医疗保健文档
    ATM基因被变异的时候,这些送信号的网络被损伤,另外,单元为了把损害减少到最小不正确地应答.ATM-的依靠的送信号的人行道的一些在酵母中 ... 贯穿发展被保存之后他们有可能给DNA损害回答中心.为A-T的痛苦的人发现有效的疗法的研究有可能通过让允许ATM变化产生的人行道的更急速,而且成为系统研究的酵母 ...
    www.310086.com/view/2O4ckEEEEFFFFTIVDE=
  • 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 = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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