NGFR p.Pro210=
c.630C>T · rs769812256 · VCV739779
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0132%, sas)
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 1.1 | GERP 1.3, phastCons 1 |
| Overall | ||
| CADD | 8.555 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0132%
South Asian · 12/91,088 alleles
Filtering AF
0.00751%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00593%
Overall
0.00136%
22/1,614,004 alleles · ultra-rare
exomes 19/1,461,836 · genomes 3/152,168 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0132% | 7,591 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,496 |
| African / African-American | 0.004% | 24,970 |
| European (non-Finnish) | 0.000169% | 590,009 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- NGFR
- Protein
- p.Pro210=
- Coding
- c.630C>T
- MANE Select
- NM_002507
- dbSNP
- rs769812256
- Type
- single nucleotide variant
- Location
- chr17:49510473 (GRCh38)
- Gene constraint
- LOEUF 1.111 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.44 · 7 PDB
- Residue 210
- the 'disordered' region
Similar variants
- NGFR p.Pro210Ser Uncertain significance ★ ⚠ same residue
- NGFR c.67-4C>T Benign ★★ same type
- NGFR p.Ser132Leu Benign ★★ same type
- NGFR p.Ser395= Benign/Likely benign ★★ same type
- NGFR p.Thr293= Benign ★★ same type
- NGFR p.Tyr111= Benign ★★ same type
- NGFR p.Ala110Ser Uncertain significance ★ ⚠ same type
- NGFR p.Ala229Val Uncertain significance ★ ⚠ same type
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/ngfr-p-pro210 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown