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ACMG classification adjustments

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@sigven sigven released this 06 Nov 15:56
  • Mechanisms of disease for cancer susceptibility genes (GoF vs. LoF) retrieved from Maxwell et al., Am J Hum Genet, 2016
  • Exceptions for HFE/SERPINA1 wrt. high population MAF (BA1)
  • Threshold for genes with "primarily truncations" set to 90% pathogenic truncations (BP1)
  • Consider only pathogenic ClinVar variants (not likely pathogenic) when checking for novel peptide changes at pathogenic loci (PS1/PM5)