TP53 p.Ser376=
c.1128T>C · VCV4071438
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,614,088)
Conditions
1
Li-Fraumeni syndrome 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.98 | GERP 0.12, phastCons 0.97 |
| Overall | ||
| CADD | 8.907 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,614,088). 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.Ser376=
- Coding
- c.1128T>C
- MANE Select
- NM_000546
- Type
- single nucleotide variant
- Location
- chr17:7669663 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.83 · 321 PDB
- Residue 376
- a UniProt-annotated variant site (in a sporadic cancer; somatic mutation); the 'interaction with carm1' region; an α-helix; the 'disordered' region; the 'basic (repression of dna-binding)' region; the 'interaction with morn3' region
Similar variants
- TP53 p.Ser376Phe Uncertain significance ★ ⚠ same residue
- TP53 p.Met237Ile Pathogenic ★★★ ⚠ same condition
- TP53 p.Val272Met Pathogenic ★★★ same condition
- TP53 p.Arg156His Uncertain significance ★★★ ⚠ same condition
- TP53 c.673-5C>G Likely benign ★★★ same condition
- TP53 p.Leu289Pro Likely benign ★★★ same condition
- TP53 p.Val10Leu Likely benign ★★★ same condition
- TP53 c.375+1G>A 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-ser376 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown