BBIP1 p.Gln71=
c.213A>G · rs762602315 · VCV1571511
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00595%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.4 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 11.12 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00595%
South Asian · 5/84,054 alleles
Filtering AF
0.00234%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00146%
Overall
0.000391%
6/1,535,868 alleles · very rare
exomes 6/1,383,636 · genomes 0/152,232 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00595% | 16,811 |
| European (non-Finnish) | 8.72e-05% | 1,146,872 |
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
- BBIP1
- Protein
- p.Gln71=
- Coding
- c.213A>G
- MANE Select
- NM_001195305
- dbSNP
- rs762602315
- Type
- single nucleotide variant
- Location
- chr10:110900426 (GRCh38)
- Gene constraint
- LOEUF 1.693 · pLI 0.07 (gnomAD)
- Structure
- AlphaFold pLDDT 82.24 · 1 PDB
Similar variants
- BBIP1 p.Gln71Glu Uncertain significance ★ ⚠ same residue
- 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
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-gln71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown