ASB10 c.1104+252T>C
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 71.2%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +252 | deep intronic (+252 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.32 | GERP -2.2 |
| Overall | ||
| CADD | 0.179 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
71.2%
African / African-American · 29,569/41,514 alleles
Filtering AF
70.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 70.3%
Overall
47.3%
71,896/152,154 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 71.2% | 1 |
| East Asian | 58.3% | 2 |
| Remaining individualsnot grpmax-eligible | 46.3% | 2 |
| Ashkenazi Jewishnot grpmax-eligible | 45.4% | 2 |
| Admixed American | 38.5% | 3 |
| Finnishnot grpmax-eligible | 37.7% | 3 |
| European (non-Finnish) | 36.9% | 3 |
| Middle Eastern | 35.4% | 3 |
| South Asian | 29.9% | 3 |
| Amishnot grpmax-eligible | 29.5% | 3 |
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
- Coding
- c.1104+252T>C
- MANE Select
- NM_001142459
- dbSNP
- rs891508
- Type
- single nucleotide variant
- Location
- chr7:151180687 (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-c-1104-plus-252t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown