MPV17 p.Ser34Ter
c.101C>G · rs2465685275 · VCV2676676
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Charcot-Marie-Tooth disease, axonal, type 2EE
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 8 |
| REVEL | 0.326 | indeterminate |
| Splicing | ||
| SpliceAI | Δ0.31 | acceptor loss, 5 bp away · masked 0 · deltas |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.8, phastCons 1 |
| Overall | ||
| CADD | 37.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
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
- MPV17
- Protein
- p.Ser34Ter
- Coding
- c.101C>G
- MANE Select
- NM_002437
- dbSNP
- rs2465685275
- Type
- single nucleotide variant
- Location
- chr2:27313079 (GRCh38)
- Gene constraint
- LOEUF 1.368 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.23
Similar variants
- MPV17 c.186+2T>C Pathogenic/Likely pathogenic ★★ same condition
- MPV17 c.375+1G>A Likely pathogenic ★★ same condition
- MPV17 c.375+1G>T Likely pathogenic ★★ same condition
- MPV17 c.375+2T>C Likely pathogenic ★★ same condition
- MPV17 c.376-2A>C Pathogenic/Likely pathogenic ★★ same condition
- MPV17 c.408+1G>A Pathogenic/Likely pathogenic ★★ same condition
- MPV17 c.461+1G>C Pathogenic ★★ same condition
- MPV17 c.461+2T>C 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/mpv17-p-ser34ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown