BBS10 p.Asp412=
c.1236T>C · rs2136090480 · VCV1144124
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Bardet-Biedl syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP -0.95, phastCons 0.66 |
| Overall | ||
| CADD | 4.233 | 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
- BBS10
- Protein
- p.Asp412=
- Coding
- c.1236T>C
- MANE Select
- NM_024685
- dbSNP
- rs2136090480
- Type
- single nucleotide variant
- Location
- chr12:76346749 (GRCh38)
- Gene constraint
- LOEUF 1.418 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.26
Disease context
Bardet-Biedl syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Bardet-Biedl syndrome (Orphanet):
- Inheritance
- Autosomal recessive, Oligogenic
- Onset
- Antenatal, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Specific population)
Similar variants
- BBS10 p.Asp412His Uncertain significance ★ ⚠ same residue
- BBS10 p.Asp412Val Uncertain significance ★ ⚠ same residue
- BBS10 p.Asp412fs Pathogenic/Likely pathogenic ★★ same residue
- BBS10 p.Asp412Asn Uncertain significance ⚠ same residue
- BBS10 c.197+1G>T Pathogenic/Likely pathogenic ★★ same condition
- BBS10 p.Arg256Ter Pathogenic ★★ same condition
- BBS10 p.Arg49Leu Likely pathogenic ★★ ⚠ same condition
- BBS10 p.Arg49Trp 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/bbs10-p-asp412 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown