NF1 p.Asp955fs
c.2862del · VCV4726887
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
3
Cardiovascular phenotype
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 22 of 58 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4 | GERP 1.4, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- NF1
- Protein
- p.Asp955fs
- Coding
- c.2862del
- MANE Select
- NM_001042492
- Type
- Deletion
- Location
- chr17:31229846 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 955
- an α-helix
Similar variants
- NF1 p.Asp955_Thr956del Pathogenic ★ same residue
- NF1 p.Asp955Ter Pathogenic ★ same residue
- NF1 p.Asp955= Likely benign ★ same residue
- NF1 c.1183_1185+2del Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1392+2del Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1527+1del Pathogenic ★★ same condition
- NF1 c.1527+4_1527+7del Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1845+1_1845+5del 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/nf1-p-asp955fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown