ACD c.242+9C>A
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,584,400)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| Splice region | donor +9 | near-intronic (+9 nt from the splice site) |
|---|---|---|
| SpliceAI | Δ0.20 | donor gain · deltas |
| Constraint at this position | ||
| Conservation | phyloP -0.4 | GERP -2.7 |
| Non-coding constraint | Z 3.98 | 1 kb window · o/e 0.76 · regional · uncalibrated |
| Overall | ||
| CADD | 5.172 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,584,400). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ACD
- Coding
- c.242+9C>A
- MANE Select
- NM_001082486
- dbSNP
- rs7204371
- Type
- single nucleotide variant
- Location
- chr16:67659894 (GRCh38)
- Gene constraint
- LOEUF 0.921 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.09 · 28 PDB
Similar variants
- ACD c.645+2T>C Uncertain significance ★★ same type
- ACD c.99+5G>A Uncertain significance ★★ same type
- ACD c.-20C>T Uncertain significance ★★ same type
- ACD c.-24C>T Uncertain significance ★★ same type
- ACD c.-26T>G Uncertain significance ★★ same type
- ACD c.-29C>A Uncertain significance ★★ same type
- ACD c.-29C>T Uncertain significance ★★ same type
- ACD c.-30C>T 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/acd-c-242-plus-9c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown