ASB10 p.Ala289=
c.867T>C · VCV4751107
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00763%, 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 -4.9 | GERP -3.7 |
| Overall | ||
| CADD | 0.852 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00763%
European (non-Finnish) · 90/1,178,810 alleles
Filtering AF
0.00632%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00585%
Overall
0.00596%
96/1,611,162 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00763% | 13,098 |
| Remaining individualsnot grpmax-eligible | 0.00481% | 20,799 |
| African / African-American | 0.00267% | 37,459 |
| East Asian | 0.00223% | 44,826 |
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
- ASB10
- Protein
- p.Ala289=
- Coding
- c.867T>C
- MANE Select
- NM_001142459
- Type
- single nucleotide variant
- Location
- chr7:151181176 (GRCh38)
- Gene constraint
- LOEUF 1.634 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.98
Similar variants
- ASB10 p.Arg138Trp Uncertain significance ★★ ⚠ same type
- ASB10 p.Arg434Cys Uncertain significance ★★ ⚠ same type
- ASB10 p.Leu455Ile Uncertain significance ★★ ⚠ same type
- ASB10 p.Phe416Leu Uncertain significance ★★ ⚠ same type
- ASB10 p.Pro31Thr Uncertain significance ★★ ⚠ same type
- ASB10 p.Pro346Ser Uncertain significance ★★ ⚠ same type
- ASB10 p.Pro422Arg Uncertain significance ★★ ⚠ same type
- ASB10 p.Pro451Leu 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/asb10-p-ala289 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown