ASB7 p.Ala71=
c.213T>C · rs115563472 · VCV783722
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.39%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · T>A here scores Δ0.98 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.7 | GERP 0.49 |
| Overall | ||
| CADD | 8.828 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.39%
African / African-American · 1,784/74,732 alleles
Filtering AF
2.29%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.26%
Overall
0.126%
2,026/1,603,488 alleles · low-frequency
exomes 1,001/1,451,114 · genomes 1,025/152,374 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.39% | 42 |
| Remaining individualsnot grpmax-eligible | 0.184% | 543 |
| Middle Eastern | 0.166% | 602 |
| Admixed American | 0.15% | 668 |
| European (non-Finnish) | 0.0023% | 43,409 |
| South Asian | 0.00221% | 45,304 |
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
- ASB7
- Protein
- p.Ala71=
- Coding
- c.213T>C
- MANE Select
- NM_198243
- dbSNP
- rs115563472
- Type
- single nucleotide variant
- Location
- chr15:100629438 (GRCh38)
- Gene constraint
- LOEUF 0.277 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 92.09 · 1 PDB
Similar variants
- ASB7 p.Leu233= Benign ★★ same type
- ASB7 p.Leu297= Benign ★★ same type
- ASB7 p.Ala45Val Uncertain significance ★ ⚠ same type
- ASB7 p.Arg231Gln Uncertain significance ★ ⚠ same type
- ASB7 p.Asn173Ser Uncertain significance ★ ⚠ same type
- ASB7 p.Asp171His Uncertain significance ★ ⚠ same type
- ASB7 p.Asp239Gly Uncertain significance ★ ⚠ same type
- ASB7 p.Asp316Gly 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/asb7-p-ala71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown