ATM L546V - GET-Evidence

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

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(ATM Leu546Val)

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

  • 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)



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


Other external references

  • rs2227924
    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 ...
  • 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 ...
  • 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. ...
  • Gilad, S (Shlomit)
    Gilad, S (Shlomit) :: The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort. MicroRNA expression detected by ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Supplemental Data
    Supplemental Tables and Supplemental ATM Protein Multiple Sequence Alignment ... File S1, which is an ATM protein multiple sequence alignment in FASTA format. ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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