NF1 p.Arg5=
c.13A>C · rs1598173775 · VCV1771751
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,538,134)
Conditions
2
Cardiovascular phenotype
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 8.4 | GERP -0.37, phastCons 1 |
| Overall | ||
| CADD | 19.53 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,538,134). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- NF1
- Protein
- p.Arg5=
- Coding
- c.13A>C
- MANE Select
- NM_001042492
- dbSNP
- rs1598173775
- Type
- single nucleotide variant
- Location
- chr17:31095322 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 5
- an α-helix
Similar variants
- NF1 c.1062+2T>C Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1062+3A>G Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1063-13G>A Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1063-1G>A Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1063-2A>C Pathogenic ★★ same condition
- NF1 c.1063-2A>G Pathogenic ★★ same condition
- NF1 c.1185+1G>A Pathogenic ★★ same condition
- NF1 c.1185+1G>T 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-arg5 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown