ATM L546V - GET-Evidence

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

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Curation:
Currentness:

ATM L546V

(ATM Leu546Val)


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

  • G @ chr11:108122592: 1.7% (188/10758) in EVS
  • G @ chr11:107627801: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (188/10758)

Publications
 

Genomes
 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr11:107627802

 

Other external references
 

    dbSNP
  • rs2227924
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (19 hits -- see all)
  • ATM - SNPedia
    Several variations within the ATM gene are associated with the risk of breast cancer or ... rs4987945, known as L546V. rs4986761, known as S707P. rs3218695, known ...
    www.snpedia.com/index.php/ATM
  • Pancreatic Panniculitis as a Sign of Adenocarcinoma of ...
    mutations in exon 13 (L546V/I550V). After cloning we found that these ... ATM gene in childhood B lymphoid malignancies. S. Avigad, R. Zaizov and I. Yaniv ...
    www.ima.org.il/imaj/ar05jul-15.pdf
  • Breast cancer - SNPedia
    ATM gene SNPs: rs3218707, known as V182L. rs4987945, known as L546V ... â€" all of the other low-risk genes, CHEK2, ATM and BRIP1, are linked to BRCA1. ...
    snpedia.com/index.php?title=Breast_cancer
  • Gilad, S (Shlomit)
    Gilad, S (Shlomit) :: The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort. MicroRNA expression detected by ...
    lib.bioinfo.pl/auid:9981
  • Chromosomal Breakage Syndromes: eMedicine Pediatrics ...
    Overview: Chromosomal breakage syndromes are a group of genetic disorders that are ... Cells with deficient ATM function fail to repair double-strand breaks in DNA, which leads ...
    emedicine.medscape.com/article/951148-overview
  • BDSP - Base documentaire - Visualisation de la notice
    The relationship between twenty missense ATM variants and breast cancer risk : ... The distribution of ATM mis-sense mutations and polymorphisms varied widely ...
    www.bdsp.ehesp.fr/Base/Scripts/ShowA.bs?bqRef=295859
  • The relationship between twenty missense ATM variants and ...
    The gene mutated in ataxia-telangiectasia (A-T), ATM, is a proximal component in performing such tasks. ... Although a single missense variant (L546V) appeared to act as a ...
    www.medscape.com/medline/abstract/12917204?prt=true
  • Rare variants of ATM and risk for Hodgkin's disease and ...
    BioInfoBank Library :: Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers. Risk-reducing salpingo-oophorectomy in women with ...
    lib.bioinfo.pl/pmid:12473594
  • 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
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... little support for an association of ATM missense mutations with breast cancer among ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Bretsky

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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