BICD2 p.Glu497Ser
c.1489_1491delinsTCA · rs2490445681 · VCV1773727
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
Inborn genetic diseases
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 0.9 | GERP -5.1, phastCons 1 |
| Regional constraint | o/e 0.84 | unconstrained · MANE · 1,691 bp · p 0.0012 · regional, not allelic |
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
- BICD2
- Protein
- p.Glu497Ser
- Coding
- c.1489_1491delinsTCA
- MANE Select
- NM_001003800
- dbSNP
- rs2490445681
- Type
- Indel
- Location
- chr9:92719154 (GRCh38)
- Gene constraint
- LOEUF 0.507 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 78.89 · 2 PDB
- Residue 497
- the 'interaction with kif5a' region
Similar variants
- BICD2 p.Glu497Ala Uncertain significance ★ ⚠ same residue
- BICD2 p.Glu497Lys Uncertain significance ★ ⚠ same residue
- BICD2 p.Glu497= Likely benign ★ same residue
- BICD2 p.Arg694Cys Pathogenic/Likely pathogenic ★★ same condition
- BICD2 p.Arg694Gly Pathogenic/Likely pathogenic ★★ same condition
- BICD2 p.Arg694His Pathogenic/Likely pathogenic ★★ same condition
- BICD2 p.Asn546del Pathogenic/Likely pathogenic ★★ same condition
- BICD2 p.Glu774Lys 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/bicd2-p-glu497ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown