CD68 p.Gly9=
c.27G>C · rs923135296 · VCV755761
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00315%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP -2.2, phastCons 0.98 |
| Overall | ||
| CADD | 5.181 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00315%
European (non-Finnish) · 37/1,176,242 alleles
Filtering AF
0.00232%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00203%
Overall
0.00256%
41/1,603,684 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00315% | 31,790 |
| South Asian | 0.00222% | 45,101 |
| Admixed American | 0.00175% | 57,258 |
| Remaining individualsnot grpmax-eligible | 0.00162% | 61,822 |
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
- CD68
- Protein
- p.Gly9=
- Coding
- c.27G>C
- MANE Select
- NM_001251
- dbSNP
- rs923135296
- Type
- single nucleotide variant
- Location
- chr17:7579704 (GRCh38)
- Gene constraint
- LOEUF 1.013 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.23
Similar variants
- CD68 p.Ile329Thr Benign ★★ same type
- CD68 p.Ala10Val Uncertain significance ★ ⚠ same type
- CD68 p.Ala262Thr Uncertain significance ★ ⚠ same type
- CD68 p.Ala269Val Uncertain significance ★ ⚠ same type
- CD68 p.Ala299Asp Uncertain significance ★ ⚠ same type
- CD68 p.Ala99Thr Uncertain significance ★ ⚠ same type
- CD68 p.Arg345Pro Uncertain significance ★ ⚠ same type
- CD68 p.Arg345Trp Uncertain significance ★ ⚠ 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/cd68-p-gly9 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown