ATP2B2 p.Arg718fs
c.2152del · VCV4822875
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 15 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 1.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ATP2B2
- Protein
- p.Arg718fs
- Coding
- c.2152del
- MANE Select
- NM_001001331
- Type
- Deletion
- Location
- chr3:10350562 (GRCh38)
- Gene constraint
- LOEUF 0.19 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.83
- Residue 718
- a UniProt-annotated variant site (in dfna82)
Similar variants
- ATP2B2 p.Arg718Cys Uncertain significance ★★ ⚠ same residue
- ATP2B2 p.Arg1028_Phe1032del Uncertain significance ★★ same type
- ATP2B2 p.Arg482fs Pathogenic ★ same type
- ATP2B2 p.Gly139fs Pathogenic ★ same type
- ATP2B2 p.Gly502fs Pathogenic ★ same type
- ATP2B2 p.Gly957fs Pathogenic ★ same type
- ATP2B2 p.Ile839fs Pathogenic ★ same type
- ATP2B2 p.Leu121fs 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/atp2b2-p-arg718fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown