ABCC9 c.816+330C>A
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +330 | deep intronic (+330 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.3 | phastCons 0.003 |
| Overall | ||
| CADD | 0.357 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Ashkenazi Jewishnot grpmax-eligible | 100% | 1 |
| Amishnot grpmax-eligible | 100% | 1 |
| Middle Easterngrpmax | 100% | 1 |
| European (non-Finnish) | 100% | 1 |
| Finnishnot grpmax-eligible | 100% | 1 |
| Admixed American | 100% | 1 |
| South Asian | 100% | 1 |
| East Asian | 99.9% | 1 |
| Remaining individualsnot grpmax-eligible | 99.8% | 1 |
| African / African-American | 99.6% | 1 |
Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- ABCC9
- Coding
- c.816+330C>A
- MANE Select
- NM_020297
- dbSNP
- rs12822030
- Type
- single nucleotide variant
- Location
- chr12:21915338 (GRCh38)
- Gene constraint
- LOEUF 0.557 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.72
Similar variants
- ABCC9 c.2506-1G>A Pathogenic/Likely pathogenic ★★ same type
- ABCC9 p.Arg1116Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- ABCC9 p.Arg1116His Pathogenic ★★ ⚠ same type
- ABCC9 p.Arg1154Gln Pathogenic ★★ same type
- ABCC9 p.Arg1154Trp Pathogenic/Likely pathogenic ★★ same type
- ABCC9 p.Gln852Ter Pathogenic/Likely pathogenic ★★ same type
- ABCC9 p.Gly989Glu Pathogenic/Likely pathogenic ★★ same type
- ABCC9 p.Thr1202Met Pathogenic/Likely pathogenic ★★ ⚠ 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/abcc9-c-816-plus-330c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown