NF1 p.Asp173=
c.519T>C · rs2544718954 · VCV2748203
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
neurofibromatosis type 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 9.682 | PHRED · no single calibrated threshold — expert panels disagree |
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
- NF1
- Protein
- p.Asp173=
- Coding
- c.519T>C
- MANE Select
- NM_001042492
- dbSNP
- rs2544718954
- Type
- single nucleotide variant
- Location
- chr17:31169930 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Disease context
neurofibromatosis type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Neurofibromatosis type 1 (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Infancy, Neonatal
- Prevalence
- 1-5 / 10 000 (United Kingdom)
Similar variants
- NF1 p.Asp173Val Uncertain significance ★ ⚠ same residue
- NF1 p.Asp173fs Pathogenic ★ same residue
- NF1 p.Asp173_Val174insGln Uncertain significance ★ same residue
- NF1 p.Asp173Glu Uncertain significance ★ same residue
- NF1 c.1062+1G>A Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1062+1G>C Pathogenic ★★ same condition
- NF1 c.1062+2T>A Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1062+2T>C Pathogenic/Likely 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-asp173 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown