Variant Info - hg19


Gene: TP53

pLI: 0.912

Haploinsufficiency: 3

Transcript: NM_000546.6

Exon: 2-6/11

Intron: 1-6/10

PVS1 Flowchart

Preliminary Decision Path: DUP1
  • Duplication (>=1 exon in size and must
    be completely contained within gene)
    • Proven in tandem
      • Reading frame disrupted and
        NMD predicted to occur
        • VeryStrong

Disease Mechanism

Gene Disease Clinical Validity Disease Mechanism Consideration Adjusted Strength
TP53 familial ovarian cancer Limited Not applicable Unmet
TP53 Li-Fraumeni syndrome 1 Definitive No Decrease VeryStrong