COMP p.437DG[1]
c.1311_1316del · rs2145900926 · VCV1493314
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 -2.8 | GERP -4 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. 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
- COMP
- Protein
- p.437DG[1]
- Coding
- c.1311_1316del
- MANE Select
- NM_000095
- dbSNP
- rs2145900926
- Type
- Deletion
- Location
- chr19:18786138 (GRCh38)
- Gene constraint
- LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60 · 1 PDB
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.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
- COMP p.Pro334_Asn338del 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-437dg-1 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown