Is TP53 p.Ser33del (c.97_99del) pathogenic?

TP53 p.Ser33del (c.9799del) is classified Uncertain significance in TP53 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-13). No gnomAD frequency available for this variant; Associated with adrenocortical carcinoma, hereditary.

What condition is associated with TP53 p.Ser33del (c.97_99del)?

TP53 p.Ser33del (c.97_99del) is associated with adrenocortical carcinoma, hereditary (ClinVar).

How common is TP53 p.Ser33del (c.97_99del) in the general population?

TP53 p.Ser33del (c.97_99del) is no gnomAD frequency available for this variant (gnomAD).

How is Adrenocortical carcinoma inherited?

Typically Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

TP53 p.Ser33del

c.97_99del · rs2543637173 · VCV2679240

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

adrenocortical carcinoma, hereditary

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 -3.1	GERP -3.4

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
Protein: p.Ser33del
Coding: c.97_99del
MANE Select: NM_000546
dbSNP: rs2543637173
Type: Deletion
Location: chr17:7676270 (GRCh38)
Gene constraint: LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 75.83 · 321 PDB
Residue 33: a β-strand; the 'interaction with ccar2' region; the 'interaction with hrmt1l2' region; a modified residue (phosphoserine; by cdk5 and cdk7); the 'transcription activation (acidic)' region; a UniProt-annotated variant site (in a sporadic cancer; somatic mutation)

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

Disease context

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

For Adrenocortical carcinoma (Orphanet):

Inheritance: Not applicable
Onset: Childhood
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

TP53 p.Ser33= Benign/Likely benign ★★ same residue
TP53 p.Ser33fs Pathogenic ★ same residue
TP53 p.Ser33Phe Conflicting classifications of pathogenicity ★ ⚠ same residue
TP53 p.Ser33Thr Uncertain significance ★ ⚠ same residue
TP53 p.Ser33Tyr Conflicting classifications of pathogenicity ★ ⚠ same residue
TP53 c.919+1G>A Pathogenic ★★★ same condition
TP53 p.Ala138Val Likely pathogenic ★★★ same condition
TP53 p.Arg110Pro 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-p-ser33del (accessed [today's date]).

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