Is TP53 p.Ser241del (c.722_724del) pathogenic?

TP53 p.Ser241del (c.722724del) is classified Likely pathogenic in TP53 (ClinVar, No assertion criteria, 1 submitter). Absent from gnomAD; Associated with adrenal cortex carcinoma.

What condition is associated with TP53 p.Ser241del (c.722_724del)?

TP53 p.Ser241del (c.722_724del) is associated with adrenal cortex carcinoma (ClinVar).

How common is TP53 p.Ser241del (c.722_724del) in the general population?

TP53 p.Ser241del (c.722_724del) is absent from gnomAD (gnomAD).

How is Adrenocortical carcinoma inherited?

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

TP53 p.Ser241del

c.722_724del · rs2543562338 · VCV2584754

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

adrenal cortex carcinoma

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 7.7	GERP 2.4, phastCons 1

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.Ser241del
Coding: c.722_724del
MANE Select: NM_000546
dbSNP: rs2543562338
Type: Deletion
Location: chr17:7674239 (GRCh38)
Gene constraint: LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 75.83 · 321 PDB
Residue 241: a DNA-binding region; the 'interaction with axin1' region; the 'interaction with the 53bp2 sh3 domain' region; an α-helix; the 'interaction with ccar2' region; the 'interaction with hipk1' region; the 'required for interaction with znf385a' region; a UniProt-annotated variant site (in sporadic cancers; somatic mutation); a UniProt-annotated variant site (in lfs; germline mutation and in sporadic cancers; somatic mutation)

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

Disease context

adrenal cortex carcinoma — 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.Ser241Ala Pathogenic/Likely pathogenic ★★ same residue
TP53 p.Ser241Cys Pathogenic/Likely pathogenic ★★ same residue
TP53 p.Ser241Phe Pathogenic/Likely pathogenic ★★ same residue
TP53 p.Ser241Thr Pathogenic/Likely pathogenic ★★ same residue
TP53 p.Ser241Tyr Pathogenic/Likely pathogenic ★★ same residue
TP53 p.Ser241= Benign/Likely benign ★★ same residue
TP53 p.Ser241fs Pathogenic ★ same residue
TP53 p.Ser241Pro Uncertain significance ★ ⚠ same residue

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-ser241del (accessed [today's date]).

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