BBIP1 p.Ser12=
c.36A>G · VCV4716678
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.44 | donor loss, 1 bp away · masked 0 · deltas |
|---|---|---|
| Pangolin | Δ0.36 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 18.74 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BBIP1
- Protein
- p.Ser12=
- Coding
- c.36A>G
- MANE Select
- NM_001195305
- Type
- single nucleotide variant
- Location
- chr10:110918122 (GRCh38)
- Gene constraint
- LOEUF 1.693 · pLI 0.07 (gnomAD)
- Structure
- AlphaFold pLDDT 82.24 · 1 PDB
- Residue 12
- the 'disordered' region
Similar variants
- BBIP1 c.37+3A>T Uncertain significance ★★ same type
- BBIP1 c.38-6T>C Uncertain significance ★★ same type
- BBIP1 p.Arg31Trp Uncertain significance ★★ ⚠ same type
- BBIP1 p.Arg78His Uncertain significance ★★ ⚠ same type
- BBIP1 p.Arg88Gln Uncertain significance ★★ ⚠ same type
- BBIP1 p.Asn15Lys Uncertain significance ★★ ⚠ same type
- BBIP1 p.Ile17Lys Uncertain significance ★★ ⚠ same type
- BBIP1 p.Lys59Asn 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/bbip1-p-ser12 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown