ACMG Class3
- PVS1VSSMPnull variant
- PS1VSSMPliterature: this AA exchange
- PS2VSSMPconfirmed de novo
- PS3VSSMPsupported by functional studies
- PS4VSSMPprevalence in disease > controls
- PM1VSSMPvariant in hotspot (missense)
- PM2VSSMPrare; < 1:20.000 in ExAC
- PM3VSSMPAR: trans with known pathogenic
- PM4VSSMPprotein length change
- PM5VSSMPliterature: AA exchange same pos
- PM6VSSMPassumed de novo
- PP1VSSMPcosegregates in family
- PP2VSSMPfew missense in gene
- PP3VSSMPpredicted pathogenic ≥ 2
- PP4VSSMPphenotype/pedigree match gene
- PP5VSSMPreliable source: pathogenic
PVS
PS
PM
PP
- BA1SASPallele frequency > 5%
- BS1SASPdisease: allele freq. too high
- BS2SASPobserved in healthy individual
- BS3SASPfunctional studies: benign
- BS4SASPlack of segregation
- BP1SASPmissense in truncation gene
- BP2SASPother variant is causative
- BP3SASPin-frame indel in repeat
- BP4SASPprediction: benign
- BP5SASPdifferent gene in other case
- BP6SASPreputable source: benign
- BP7SASPsilent, no splicing/conservation
BSA
BS
BP
Selected Criteria
Detailed Criteria Information
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