BBIP1 p.Arg31fs
c.91dup · rs1564689870 · VCV967190
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 6.706e-06)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon within the last 50 nt of the penultimate exon (3 of 4, 20 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP 1.8, phastCons 0.98 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
0.000671%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- BBIP1
- Protein
- p.Arg31fs
- Coding
- c.91dup
- MANE Select
- NM_001195305
- dbSNP
- rs1564689870
- Type
- Duplication
- Location
- chr10:110901558 (GRCh38)
- Gene constraint
- LOEUF 1.693 · pLI 0.07 (gnomAD)
- Structure
- AlphaFold pLDDT 82.24 · 1 PDB
Similar variants
- BBIP1 p.Arg31Trp Uncertain significance ★★ ⚠ same residue
- BBIP1 p.Arg31Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
- BBIP1 p.Glu84fs Uncertain significance ★★ same type
- BBIP1 p.Leu50dup Uncertain significance ★★ same type
- BBIP1 p.Asn15fs Uncertain significance ★ same type
- BBIP1 p.Lys3fs Uncertain significance ★ same type
- BBIP1 p.Met69fs Uncertain significance ★ same type
- BBIP1 p.Ser60fs 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-arg31fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown