MED17 p.Ser288=
c.864C>G · rs2135713788 · VCV1667459
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 -0.045 | GERP -0.11, phastCons 0.67 |
| Overall | ||
| CADD | 7.514 | 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
- MED17
- Protein
- p.Ser288=
- Coding
- c.864C>G
- MANE Select
- NM_004268
- dbSNP
- rs2135713788
- Type
- single nucleotide variant
- Location
- chr11:93794912 (GRCh38)
- Gene constraint
- LOEUF 0.719 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.95 · 11 PDB
Similar variants
- MED17 c.1013-1G>A Likely pathogenic ★★ same type
- MED17 c.1467-1G>C Likely pathogenic ★★ same type
- MED17 c.1585-1G>T Likely pathogenic ★★ same type
- MED17 p.Arg189Ter Pathogenic/Likely pathogenic ★★ same type
- MED17 p.Arg197Ter Pathogenic/Likely pathogenic ★★ same type
- MED17 p.Arg279Ter Pathogenic/Likely pathogenic ★★ same type
- MED17 p.Arg454Ter Pathogenic/Likely pathogenic ★★ same type
- MED17 p.Gln158Ter 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/med17-p-ser288 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown