COMP p.Glu730del
c.2188_2190del · VCV3700709
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00119%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2, phastCons 1 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00119%
European (non-Finnish) · 14/1,179,980 alleles
Filtering AF
0.000688%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000539%
Overall
0.000959%
14/1,459,888 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- COMP
- Protein
- p.Glu730del
- Coding
- c.2188_2190del
- MANE Select
- NM_000095
- Type
- Deletion
- Location
- chr19:18783091 (GRCh38)
- Gene constraint
- LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60 · 1 PDB
- Residue 730
- the tsp c-terminal domain; the 'mediates cell survival and induction of the iap family of survival proteins' region; a disulfide bond
Similar variants
- COMP p.Asp385del Likely pathogenic ★★ same type
- COMP p.Glu341_Asp342del Pathogenic/Likely pathogenic ★★ same type
- COMP c.1136-1_1144del Likely pathogenic ★ same type
- COMP p.437DG[1] Likely pathogenic ★ same type
- COMP p.Asn350_Asp372del Likely pathogenic ★ same type
- COMP p.Asn474_Asp475del Likely pathogenic ★ same type
- COMP p.Asp509_Ala510delinsGlu Likely pathogenic ★ same type
- COMP p.Gly427fs 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/comp-p-glu730del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown