CD320 c.*83C>G
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 15.3%, sas) — too common for a highly-penetrant pathogenic allele
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 1.4 | GERP 1.2, phastCons 0.015 |
| Non-coding constraint | Z 2.95 | 1 kb window · o/e 0.74 · regional · uncalibrated |
| Overall | ||
| CADD | 1.167 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
15.3%
South Asian · 13,726/89,622 alleles
Filtering AF
15.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 15%
Overall
1.25%
19,454/1,551,686 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 15.3% | 7 |
| African / African-American | 5.95% | 17 |
| Middle Eastern | 1.44% | 69 |
| Remaining individualsnot grpmax-eligible | 1.29% | 77 |
| Admixed American | 0.355% | 281 |
| East Asian | 0.074% | 1,352 |
| European (non-Finnish) | 0.0207% | 4,835 |
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
- CD320
- Coding
- c.*83C>G
- MANE Select
- NM_016579
- dbSNP
- rs199841056
- Type
- single nucleotide variant
- Location
- chr19:8302380 (GRCh38)
- Gene constraint
- LOEUF 1.488 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.61 · 6 PDB
Similar variants
- CD320 p.Arg129Leu Uncertain significance ★★ ⚠ same type
- CD320 p.Arg138Ser Uncertain significance ★★ ⚠ same type
- CD320 p.Arg254Gln Uncertain significance ★★ ⚠ same type
- CD320 p.Arg258His Uncertain significance ★★ ⚠ same type
- CD320 p.Asn170Ser Uncertain significance ★★ ⚠ same type
- CD320 p.Asp143Asn Uncertain significance ★★ ⚠ same type
- CD320 p.Asp160Asn Uncertain significance ★★ ⚠ same type
- CD320 p.Gly166Val 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/cd320-c-star-83c-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown