ABCA5 c.788+8A>C
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00122%, nfe)
Conditions
1
ABCA5-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.78 | GERP -1.1, phastCons 0.92 |
| Non-coding constraint | Z 1.46 | 1 kb window · o/e 0.89 · regional · uncalibrated |
| Overall | ||
| CADD | 7.933 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00122%
European (non-Finnish) · 12/985,250 alleles
Filtering AF
0.000649%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000513%
Overall
0.000925%
12/1,297,604 alleles · very rare
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
- ABCA5
- Coding
- c.788+8A>C
- MANE Select
- NM_172232
- dbSNP
- rs750563825
- Type
- single nucleotide variant
- Location
- chr17:69306717 (GRCh38)
- Gene constraint
- LOEUF 0.97 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.12
Disease context
ABCA5-related disorder
Similar variants
- ABCA5 c.4415+3G>A Likely benign same condition
- ABCA5 p.Ala1444= Likely benign same condition
- ABCA5 p.Ala178Thr Benign ⚠ same condition
- ABCA5 p.Arg555= Likely benign same condition
- ABCA5 p.Gln484Arg Benign same condition
- ABCA5 p.Leu1131= Benign same condition
- ABCA5 p.Leu1183= Benign same condition
- ABCA5 p.Thr1248Met Likely benign same condition
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/abca5-c-788-plus-8a-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown