TP53 p.Ser314fs
c.940_952del · VCV4294233
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Li-Fraumeni syndrome 1
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 9 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP -4.1, phastCons 0.21 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TP53
- Protein
- p.Ser314fs
- Coding
- c.940_952del
- MANE Select
- NM_000546
- Type
- Deletion
- Location
- chr17:7673576 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.83 · 321 PDB
- Residue 314
- a UniProt-annotated variant site (in a sporadic cancer; somatic mutation); the 'disordered' region; the 'interaction with carm1' region; the 'interaction with ccar2' region; the 'interaction with hipk1' region
Similar variants
- TP53 p.Arg213fs Pathogenic ★★★ same condition
- TP53 p.Ala88fs Pathogenic ★★ same condition
- TP53 p.Arg333fs Pathogenic ★★ same condition
- TP53 p.Asn200fs Pathogenic ★★ same condition
- TP53 p.Asn263fs Pathogenic ★★ same condition
- TP53 p.Gly108_Phe113del Pathogenic/Likely pathogenic ★★ same condition
- TP53 p.Gly154fs Pathogenic/Likely pathogenic ★★ same condition
- TP53 p.Ile254_Thr256del Pathogenic/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-p-ser314fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown