ABCA7 p.Tyr241=
c.723C>T · rs145274467 · VCV777343
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.14%, 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 · C>A here scores Δ0.64 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -9.5 | GERP -2.4 |
| Overall | ||
| CADD | 0.28 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.14%
African / African-American · 1,609/75,014 alleles
Filtering AF
2.06%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.02%
Overall
0.12%
1,934/1,610,314 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.14% | 47 |
| Admixed American | 0.165% | 605 |
| Remaining individualsnot grpmax-eligible | 0.138% | 724 |
| Middle Eastern | 0.0991% | 1,009 |
| European (non-Finnish) | 0.0114% | 8,790 |
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
- ABCA7
- Protein
- p.Tyr241=
- Coding
- c.723C>T
- MANE Select
- NM_019112
- dbSNP
- rs145274467
- Type
- single nucleotide variant
- Location
- chr19:1043184 (GRCh38)
- Gene constraint
- LOEUF 1.368 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.77 · 6 PDB
Similar variants
- ABCA7 c.2684+5G>A Uncertain significance ★★ same type
- ABCA7 c.3578-2A>G Uncertain significance ★★ same type
- ABCA7 p.Arg1026Cys Uncertain significance ★★ ⚠ same type
- ABCA7 p.Arg652Cys Uncertain significance ★★ ⚠ same type
- ABCA7 p.Arg880Trp Uncertain significance ★★ ⚠ same type
- ABCA7 p.Asp1452Asn Uncertain significance ★★ ⚠ same type
- ABCA7 p.Asp2085Asn Uncertain significance ★★ ⚠ same type
- ABCA7 p.Gln925Ter 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/abca7-p-tyr241 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown