CD276 p.Leu419=
c.1257G>A · rs150877011 · VCV779896
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.2%, afr)
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 2.3 | GERP -2.5, phastCons 1 |
| Overall | ||
| CADD | 8.853 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.2%
African / African-American · 3,155/75,072 alleles
Filtering AF
4.08%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.03%
Overall
0.218%
3,511/1,614,100 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.2% | 24 |
| Middle Eastern | 0.25% | 399 |
| Remaining individualsnot grpmax-eligible | 0.242% | 414 |
| Admixed American | 0.203% | 492 |
| South Asian | 0.00769% | 13,012 |
| European (non-Finnish) | 0.00517% | 19,345 |
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
- CD276
- Protein
- p.Leu419=
- Coding
- c.1257G>A
- MANE Select
- NM_001024736
- dbSNP
- rs150877011
- Type
- single nucleotide variant
- Location
- chr15:73704360 (GRCh38)
- Gene constraint
- LOEUF 0.888 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.63 · 3 PDB
- Residue 419
- a disulfide bond; the ig-like c2-type 2 domain
Similar variants
- CD276 p.Ala132Ser Uncertain significance ★ ⚠ same type
- CD276 p.Ala139Ser Uncertain significance ★ ⚠ same type
- CD276 p.Ala28Ser Uncertain significance ★ ⚠ same type
- CD276 p.Ala312Thr Uncertain significance ★ ⚠ same type
- CD276 p.Ala350Thr Uncertain significance ★ ⚠ same type
- CD276 p.Ala351Val Uncertain significance ★ ⚠ same type
- CD276 p.Ala432Gly Uncertain significance ★ ⚠ same type
- CD276 p.Ala449Val 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/cd276-p-leu419 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown