PS1
Not assessed: no qualifying pathogenic or likely pathogenic variant producing the same amino-acid change as p.Gly293Arg is documented in the reviewed evidence.
PS2
Not assessed: no proband cancer, de novo observation, or parental testing is documented, so the VCEP PS2 point thresholds cannot be applied.
PS3
Not met: TP53 VCEP assigns BS3 because Kato is functional and Funk/Giacomelli are noLOF, with no majority-LOF pattern required for PS3.
PS4
Not assessed: no proband phenotype or PS4 point total is available, and the searched PS4-Points-Table.pdf has no c.877G>A, p.Gly293Arg, or p.G293R entry.
PM1
Not met: p.Gly293Arg is at codon 293, outside the six TP53 PM1 codons, and cancerhotspots returned no significant hotspot for TP53 G293.
PM5
Not assessed: p.Gly293Trp is reported at residue 293, but its pathogenicity is unestablished and the same-residue search ended with an HTTP 429 error.
PP1
Not assessed: no relatives, meioses, or cosegregation data are documented, so the VCEP PP1 thresholds cannot be applied.
PP3
Not met: the exact TP53 lookup entry reports BayesDel -0.0095438, below the VCEP PP3 missense threshold of 0.16, and assigns BP4_moderate instead.
PP4
Not assessed: no PP4-qualifying VAF observation is available; the framework requires VAF 5-35% for Supporting or at least two 5-25% observations for Moderate.
PP5
Not met: exact-match ClinVar variation 230208 has zero Expert Panel submissions and no Expert Panel Pathogenic or Likely Pathogenic classification.
