Variant Info - hg19

Frameshift: 17-7577045-TC-TAAA

Gene: TP53

pLI: 0.912

Haploinsufficiency: 3

cHGVS: NM_000546.6:c.892delinsTTT

pHGVS: NP_000537.3:p.Glu298PhefsTer48

Exon: 8/11

Intron: -/10

OMIM ClinVar gnomAD

PVS1 Flowchart

Preliminary Decision Path: NF1
  • Nonsense or Frameshift
    • Predicted to undergo NMD
      • Exon is present in
        biologically-relevant transcript(s)
        • VeryStrong

Disease Mechanism

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