ABCC6 p.Asp784fs
c.2350del · VCV3393229
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
autosomal recessive inherited pseudoxanthoma elasticum
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 31 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCC6
- Protein
- p.Asp784fs
- Coding
- c.2350del
- MANE Select
- NM_001171
- Type
- Deletion
- Location
- chr16:16178863 (GRCh38)
- Gene constraint
- LOEUF 0.917 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.32 · 4 PDB
- Residue 784
- the abc transporter 1 domain
Disease context
autosomal recessive inherited pseudoxanthoma elasticum — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Pseudoxanthoma elasticum (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- ABCC6 c.2248-2_2248-1del Pathogenic ★★ same condition
- ABCC6 c.3506+2_3506+5del Pathogenic/Likely pathogenic ★★ same condition
- ABCC6 c.998+2_998+3del Pathogenic/Likely pathogenic ★★ same condition
- ABCC6 p.Ala667fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC6 p.Arg473fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC6 p.Asp1368fs Pathogenic ★★ same condition
- ABCC6 p.Glu559fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC6 p.Leu775fs Likely pathogenic ★★ 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/abcc6-p-asp784fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown