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
PVS1 Flowchart
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 |