ABCC2 p.Asp210Ter
c.627dup · rs2492846692 · VCV2867134
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 32 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.62 | GERP -0.84, phastCons 0.97 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. 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
- ABCC2
- Protein
- p.Asp210Ter
- Coding
- c.627dup
- MANE Select
- NM_000392
- dbSNP
- rs2492846692
- Type
- Duplication
- Location
- chr10:99794462 (GRCh38)
- Gene constraint
- LOEUF 0.985 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.40 · 16 PDB
- Residue 210
- an α-helix
Similar variants
- ABCC2 p.Asp1073Ter Pathogenic ★★ same type
- ABCC2 p.Leu1213fs Pathogenic ★★ same type
- ABCC2 p.Lys298fs Pathogenic ★★ same type
- ABCC2 p.Ser1168fs Pathogenic ★★ same type
- ABCC2 p.Val667fs Pathogenic/Likely pathogenic ★★ same type
- ABCC2 p.Ala579fs Pathogenic ★ same type
- ABCC2 p.Asp304fs Likely pathogenic ★ same type
- ABCC2 p.Gly853fs 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/abcc2-p-asp210ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown