TP53 p.Asp148fs
c.441_442insCTTC · VCV3766516
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.17 | GERP -3.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TP53
- Protein
- p.Asp148fs
- Coding
- c.441_442insCTTC
- MANE Select
- NM_000546
- Type
- Insertion
- Location
- chr17:7675170 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.83 · 321 PDB
- Residue 148
- a DNA-binding region; the 'interaction with axin1' region; the 'interaction with ccar2' region; a UniProt-annotated variant site (in a sporadic cancer; somatic mutation); a UniProt-annotated variant site (in sporadic cancers; somatic mutation); the 'interaction with hipk1' region; the 'required for interaction with znf385a' region; the 'required for interaction with fbxo42' region
Similar variants
- TP53 p.Asp148Ala Conflicting classifications of pathogenicity ★ ⚠ same residue
- TP53 p.Asp148Asn Uncertain significance ★ ⚠ same residue
- TP53 p.Asp148Glu Uncertain significance ★ ⚠ same residue
- TP53 p.Asp148Tyr Conflicting classifications of pathogenicity ★ ⚠ same residue
- TP53 p.Asp148_Pro153dup Likely pathogenic same residue
- TP53 p.Asp148Val Uncertain significance ⚠ same residue
- TP53 p.Cys182delinsTrpTer Pathogenic ★ same type
- TP53 p.His178fs Pathogenic ★ same type
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-asp148fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown