Table 2 International Agency for Research on Cancer variant classification
Variant classDescriptionSurveillance recommendationsPredictive testing
5Definitely pathogenicFull high risk surveillance according to current guidelinesGenetic testing offered to at-risk family members
4Likely pathogenicFull high risk surveillance according to current guidelinesGenetic testing offered to at-risk family members
3UncertainSurveillance based on family history and other known risk factorsNo genetic testing offered
2Likely not pathogenicTreat as if ‘no mutation’ was detectedNo genetic testing offered
1Not pathogenicTreat as if ‘no mutation’ was detectedNo genetic testing offered
  • Although this system was designed for classification of variants in relation to a potential role in cancer predisposition, it can also be used to classify variants in other situations.