ASB10 p.Ser424=
c.1272G>A · rs104886486 · VCV99951
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.56%, 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 -10 | GERP -2.7 |
| Overall | ||
| CADD | 0.893 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.56%
European (non-Finnish) · 18,270/1,169,980 alleles
Filtering AF
1.54%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.53%
Overall
1.25%
19,850/1,592,216 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.56% | 64 |
| Remaining individualsnot grpmax-eligible | 1.16% | 86 |
| Amishnot grpmax-eligible | 0.658% | 152 |
| Admixed American | 0.581% | 172 |
| Ashkenazi Jewishnot grpmax-eligible | 0.427% | 234 |
| African / African-American | 0.241% | 415 |
| Finnishnot grpmax-eligible | 0.21% | 475 |
| South Asian | 0.105% | 957 |
| Middle Eastern | 0.0914% | 1,094 |
| East Asian | 0.00448% | 22,315 |
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.Ser424=
- Coding
- c.1272G>A
- MANE Select
- NM_001142459
- dbSNP
- rs104886486
- Type
- single nucleotide variant
- Location
- chr7:151176244 (GRCh38)
- Gene constraint
- LOEUF 1.634 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.98
- Residue 424
- the socs box domain
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-ser424 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown