CERT1 p.Gln2del
c.3GCA[1] · rs2479456082 · VCV2573778
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 7.16e-05%)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.2 | GERP -2.7, phastCons 0.76 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
7.16e-05%
Overall
7.16e-05%
1/1,396,640 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
- CERT1
- Protein
- p.Gln2del
- Coding
- c.3GCA[1]
- MANE Select
- NM_016218 · reported on NM_001130105
- dbSNP
- rs2479456082
- Type
- Microsatellite
- Location
- chr5:75511837 (GRCh38)
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/cert1-p-gln2del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown