MACF1 p.Arg1406fs
c.4216del · VCV3603163
Uncertain significance
Single submitter
Classification
Uncertain significance
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 33 of 101 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MACF1
- Protein
- p.Arg1406fs
- Coding
- c.4216del
- MANE Select
- NM_001394062
- Type
- Deletion
- Location
- chr1:39322987 (GRCh38)
- Gene constraint
- LOEUF 0.238 · pLI 1.00 (gnomAD)
Similar variants
- MACF1 p.Arg1406Trp Likely benign ★ same residue
- MACF1 c.20418+18del Benign/Likely benign ★★ same type
- MACF1 p.Gln2964fs Pathogenic ★ same type
- MACF1 c.20613+2_20613+5del Uncertain significance ★ same type
- MACF1 c.21771+6del Uncertain significance ★ same type
- MACF1 p.14CRSERS[1] Uncertain significance ★ same type
- MACF1 p.7480GSRA[2] Conflicting classifications of pathogenicity ★ same type
- MACF1 p.Ala5450fs Uncertain significance ★ 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/macf1-p-arg1406fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown