FIBP p.Ser217=
c.651A>G · VCV4912343
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0168%, mid)
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 0.13 | GERP -1.9, phastCons 0.8 |
| Overall | ||
| CADD | 5.87 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0168%
Middle Eastern · 1/5,942 alleles
Filtering AF
0.00117%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000989%
Overall
0.00146%
23/1,572,896 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0168% | 5,942 |
| European (non-Finnish) | 0.00181% | 55,152 |
| Remaining individualsnot grpmax-eligible | 0.00163% | 61,276 |
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
- FIBP
- Protein
- p.Ser217=
- Coding
- c.651A>G
- MANE Select
- NM_004214
- Type
- single nucleotide variant
- Location
- chr11:65885182 (GRCh38)
- Gene constraint
- LOEUF 1.009 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.33
Similar variants
- FIBP p.Asp223Gly Uncertain significance ★★ same type
- FIBP p.Leu352Arg Uncertain significance ★★ ⚠ same type
- FIBP c.1004+33T>C Benign ★★ same type
- FIBP p.Ala50= Benign ★★ same type
- FIBP p.Gly187= Likely benign ★★ same type
- FIBP p.Gly263= Likely benign ★★ same type
- FIBP p.Leu240= Benign/Likely benign ★★ same type
- FIBP p.Leu299= Benign/Likely benign ★★ 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/fibp-p-ser217 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown