ACD c.-9G>C
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00559%, nfe)
Conditions
2
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.154 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.03 | GERP -2.8 |
| Non-coding constraint | Z 2.46 | 1 kb window · o/e 0.86 · regional · uncalibrated |
| Overall | ||
| CADD | 6.134 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00559%
European (non-Finnish) · 66/1,179,928 alleles
Filtering AF
0.00451%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00411%
Overall
0.00409%
66/1,612,604 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
- ACD
- Coding
- c.-9G>C
- MANE Select
- NM_001082486
- dbSNP
- rs377247506
- Type
- single nucleotide variant
- Location
- chr16:67660229 (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 condition
- ACD c.99+5G>A Uncertain significance ★★ same condition
- ACD c.-20C>T Uncertain significance ★★ same condition
- ACD c.-24C>T Uncertain significance ★★ same condition
- ACD c.-26T>G Uncertain significance ★★ same condition
- ACD c.-29C>A Uncertain significance ★★ same condition
- ACD c.-29C>T Uncertain significance ★★ same condition
- ACD c.-30C>T Uncertain significance ★★ 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/acd-c-minus-9g-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown