Is TP53 c.784_786del pathogenic?

TP53 c.784786del is classified Uncertain significance in TP53 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2022-06-20). Absent from gnomAD; Associated with hereditary neoplastic syndrome.

What condition is associated with TP53 c.784_786del?

TP53 c.784_786del is associated with hereditary neoplastic syndrome, Li-Fraumeni syndrome (ClinVar).

How common is TP53 c.784_786del in the general population?

TP53 c.784_786del is absent from gnomAD (gnomAD).

TP53 c.784_786del

rs1567548347 · VCV566093

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.7	GERP 0.19, phastCons 0.71

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: TP53
Coding: c.784_786del
MANE Select: NM_000546
dbSNP: rs1567548347
Type: Deletion
Location: chr17:7673834 (GRCh38)
Gene constraint: LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 75.83 · 321 PDB

Full TP53 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Li-Fraumeni syndrome

Similar variants

TP53 c.993+1del Likely pathogenic ★★★ same condition
TP53 p.Ala161_Tyr163delinsAsp Likely pathogenic ★★★ same condition
TP53 p.Arg213fs Pathogenic ★★★ same condition
TP53 p.Leu252_Ile254del Pathogenic ★★★ same condition
TP53 p.Lys382fs Likely pathogenic ★★★ same condition
TP53 p.Lys373fs Uncertain significance ★★★ same condition
TP53 c.*772del Benign ★★★ same condition
TP53 c.283_375+21del Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/tp53-c-784-786del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown