MAP1B p.Pro752fs
c.2253dup · VCV3544372
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
periventricular nodular heterotopia 9
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 5 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP 1.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MAP1B
- Protein
- p.Pro752fs
- Coding
- c.2253dup
- MANE Select
- NM_005909
- Type
- Duplication
- Location
- chr5:72195601 (GRCh38)
- Gene constraint
- LOEUF 0.105 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 46.18
- Residue 752
- the 'disordered' region; a UniProt-annotated variant site (in pvnh9)
Similar variants
- MAP1B p.Ser1122fs Likely pathogenic ★ same condition
- MAP1B p.Arg1664Ter Pathogenic/Likely pathogenic ★★ same condition
- 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.Lys781_Ile782insTer Pathogenic ★★ same condition
- MAP1B p.Arg1399Cys Uncertain significance ★★ ⚠ same condition
- MAP1B p.Glu1944Lys 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-pro752fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown