SEPSECS p.Phe286=
c.858T>C · rs2474660969 · VCV2769195
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3 | GERP -3.9, phastCons 1 |
| Overall | ||
| CADD | 8.189 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- SEPSECS
- Protein
- p.Phe286=
- Coding
- c.858T>C
- MANE Select
- NM_016955
- dbSNP
- rs2474660969
- Type
- single nucleotide variant
- Location
- chr4:25145080 (GRCh38)
- Gene constraint
- LOEUF 1.096 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 92.63 · 7 PDB
- Residue 286
- an α-helix
Similar variants
- SEPSECS p.Phe286Val Uncertain significance ★ ⚠ same residue
- SEPSECS c.1027-2A>G Likely pathogenic ★★ same type
- SEPSECS c.389-1G>A Likely pathogenic ★★ same type
- SEPSECS c.547+1G>C Likely pathogenic ★★ same type
- SEPSECS p.Ala239Thr Pathogenic/Likely pathogenic ★★ same type
- SEPSECS p.Arg156Ter Pathogenic/Likely pathogenic ★★ same type
- SEPSECS p.Arg169Ter Pathogenic/Likely pathogenic ★★ same type
- SEPSECS p.Arg271Ter Pathogenic/Likely 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/sepsecs-p-phe286 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown