ASB16 p.Arg28=
c.82C>A · rs144229400 · VCV2647817
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.37%, 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 -0.072 | GERP 1.3, phastCons 0.042 |
| Overall | ||
| CADD | 6.179 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.37%
European (non-Finnish) · 4,364/1,179,398 alleles
Filtering AF
0.361%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.357%
Overall
0.289%
4,656/1,611,142 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.37% | 270 |
| Remaining individualsnot grpmax-eligible | 0.189% | 528 |
| Finnishnot grpmax-eligible | 0.0954% | 1,048 |
| Admixed American | 0.0951% | 1,052 |
| Middle Eastern | 0.093% | 1,075 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0406% | 2,462 |
| African / African-American | 0.0387% | 2,586 |
| South Asian | 0.011% | 9,094 |
| East Asian | 0.00223% | 44,834 |
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
- ASB16
- Protein
- p.Arg28=
- Coding
- c.82C>A
- MANE Select
- NM_080863
- dbSNP
- rs144229400
- Type
- single nucleotide variant
- Location
- chr17:44170871 (GRCh38)
- Gene constraint
- LOEUF 1.675 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.68
Similar variants
- ASB16 p.Arg28Gln Uncertain significance ★ ⚠ same residue
- ASB16 p.Ala200Pro Uncertain significance ★ ⚠ same type
- ASB16 p.Ala200Thr Uncertain significance ★ ⚠ same type
- ASB16 p.Ala219Val Uncertain significance ★ ⚠ same type
- ASB16 p.Ala252Pro Uncertain significance ★ ⚠ same type
- ASB16 p.Ala254Thr Uncertain significance ★ ⚠ same type
- ASB16 p.Ala273Gly Uncertain significance ★ ⚠ same type
- ASB16 p.Ala291Thr 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/asb16-p-arg28 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown