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criteria_pathogenic_or_not [Retinoblastoma Wiki]
 

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Classification criteria

strong evidence in support of pathogenicity

  •  new germline mutation
  •  new somatic mutation (including mosaic)
  •  RNA analysis shows missplicing
  • premature termination

weak evidence in support of pathogenicity

  •  cosegregating with phenotype in one family

—-

strong evidence against pathogenicity

  •   present in tumor in addition to two deleterious mutations (variant allele also present in DNA from blood)
  •   not cosegregating with phenotype
  •   occurs in normal population (more than one observation)

weak evidence against pathogenicity

  •   observed in normal control individual (single observation)

Classification criteria, alternative scheme

Developed for classification of variants in the promoter region of the retinoblastoma gene according to their phenotypic consequence

Criteria for operational classification on the basis of genetic data

PRED: predisposing to retinoblastoma
  1. new germline mutation
  2. mosaic mutation
  3. somatic mutation (identified in tumor but not in constitutional DNA)
  4. variant co-segregating in in more than one unrelated familiy with ≥ two affected carriers
NED: no effect on risk of retinoblastoma detected
  1. variant present in unrelated unaffected individuals (e.g. population panel)
  2. variant present in constitutional DNA and DNA from retinoblastoma AND DNA from this retinoblastoma also shows two predisposing mutations (LOH, hypermethylation, premature termination, invariate splice site) of somatic origin
  3. variant present in constitutional DNA in addition to a predisposing mutation (LOH, premature termination, invariate splice site)
VUC: variant of uncertain consequence
  1. all variants that do not belong to either of the above classes.
 
criteria_pathogenic_or_not.txt · Last modified: 2011/03/30 14:24 by dietmar
 
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