FH p.Ala486del
c.1456_1458del · rs2147911262 · VCV1217999
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP -5.6 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. 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
- FH
- Protein
- p.Ala486del
- Coding
- c.1456_1458del
- MANE Select
- NM_000143
- dbSNP
- rs2147911262
- Type
- Deletion
- Location
- chr1:241497903 (GRCh38)
- Gene constraint
- LOEUF 0.599 · pLI 0.27 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 92.92 · 8 PDB
- Residue 486
- an α-helix
Similar variants
- FH p.Ala486fs Pathogenic ★ same residue
- FH p.Ala486= Benign/Likely benign ★★ same residue
- FH p.Ala486Asp Pathogenic ★ same residue
- FH p.Ala486Thr Uncertain significance ★ ⚠ same residue
- FH c.1058_1108+19del Pathogenic ★★ same type
- FH c.1391-2del Pathogenic/Likely pathogenic ★★ same type
- FH c.1392delG Pathogenic ★★ same type
- FH c.267+1_267+10del Pathogenic/Likely pathogenic ★★ 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/fh-p-ala486del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown