MAP1B p.Arg1664Ter
c.4990C>T · rs1580026238 · VCV800722
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
4
neurodevelopmental disorder
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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 7 |
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 1.9 | GERP 0.088, phastCons 0.99 |
| Overall | ||
| CADD | 36.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- MAP1B
- Protein
- p.Arg1664Ter
- Coding
- c.4990C>T
- MANE Select
- NM_005909
- dbSNP
- rs1580026238
- Type
- single nucleotide variant
- Location
- chr5:72198345 (GRCh38)
- Gene constraint
- LOEUF 0.105 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 46.18
- Residue 1664
- a UniProt-annotated variant site (in pvnh9); a UniProt-annotated variant site (in pvnh9; no effect on protein expression); the 'disordered' region
Similar variants
- MAP1B p.Arg1664Gln Uncertain significance ★ ⚠ same residue
- MAP1B p.Arg303Ter Pathogenic/Likely pathogenic ★★ same condition
- MAP1B p.Arg85Ter Pathogenic/Likely pathogenic ★★ same condition
- MAP1B p.Arg999Ter Pathogenic/Likely pathogenic ★★ same condition
- MAP1B p.Arg1399Cys Uncertain significance ★★ ⚠ same condition
- MAP1B p.Glu1944Lys Uncertain significance ★★ ⚠ same condition
- MAP1B p.Leu1453Val Uncertain significance ★★ ⚠ same condition
- MAP1B p.Lys2253Arg Uncertain significance ★★ ⚠ 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/map1b-p-arg1664ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown