ASB6 p.Ser182=
c.546C>T · VCV3435055
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0329%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.028 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -6.9 | GERP -3.1 |
| Overall | ||
| CADD | 0.25 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0329%
Middle Eastern · 2/6,084 alleles
Filtering AF
0.0174%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0166%
Overall
0.0152%
246/1,613,716 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0329% | 3,042 |
| European (non-Finnish) | 0.0195% | 5,130 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,619 |
| Admixed American | 0.00501% | 19,980 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,594 |
| South Asian | 0.0033% | 30,340 |
| African / African-American | 0.00267% | 37,450 |
| East Asian | 0.00223% | 44,892 |
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
- ASB6
- Protein
- p.Ser182=
- Coding
- c.546C>T
- MANE Select
- NM_017873
- Type
- single nucleotide variant
- Location
- chr9:129638625 (GRCh38)
- Gene constraint
- LOEUF 1.225 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.02
Similar variants
- ASB6 p.Ser182Gly Uncertain significance ★ ⚠ same residue
- ASB6 p.Val225= Likely benign ★★ same type
- ASB6 p.Ala167Thr Uncertain significance ★ ⚠ same type
- ASB6 p.Ala286Thr Uncertain significance ★ ⚠ same type
- ASB6 p.Ala355Val Uncertain significance ★ ⚠ same type
- ASB6 p.Ala43Ser Uncertain significance ★ ⚠ same type
- ASB6 p.Ala72Thr Uncertain significance ★ ⚠ same type
- ASB6 p.Ala77Val 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/asb6-p-ser182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown