ASB10 p.Cys196=
c.588T>C · VCV4797956
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.965%, 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 -0.17 | GERP -1.7, phastCons 0.003 |
| Overall | ||
| CADD | 2.031 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.965%
African / African-American · 720/74,624 alleles
Filtering AF
0.906%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.883%
Overall
0.0518%
822/1,586,910 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.965% | 104 |
| Remaining individualsnot grpmax-eligible | 0.0816% | 1,225 |
| Admixed American | 0.0762% | 1,312 |
| Middle Eastern | 0.0168% | 5,944 |
| South Asian | 0.00455% | 21,987 |
| European (non-Finnish) | 0.000172% | 581,304 |
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.Cys196=
- Coding
- c.588T>C
- MANE Select
- NM_001142459
- Type
- single nucleotide variant
- Location
- chr7:151181455 (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-cys196 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown