BSCL2 p.Gly44=
c.132T>A · rs1565152933 · VCV623774
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 carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.6 | GERP 0.2, phastCons 1 |
| Overall | ||
| CADD | 11.12 | 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
- BSCL2
- Protein
- p.Gly44=
- Coding
- c.132T>A
- MANE Select
- NM_001122955
- dbSNP
- rs1565152933
- Type
- single nucleotide variant
- Location
- chr11:62705573 (GRCh38)
- Gene constraint
- LOEUF 0.869 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.09 · 1 PDB
Similar variants
- BSCL2 p.Gly44Asp Uncertain significance ★ same residue
- BSCL2 p.Gly44Arg Likely benign ★ same residue
- BSCL2 c.1006-2A>C Likely pathogenic ★★ same type
- BSCL2 c.1006-2A>G Pathogenic/Likely pathogenic ★★ same type
- BSCL2 c.486+1G>A Pathogenic/Likely pathogenic ★★ same type
- BSCL2 c.631-1G>C Pathogenic/Likely pathogenic ★★ same type
- BSCL2 c.766-2A>G Pathogenic ★★ same type
- BSCL2 p.Ala276Pro Pathogenic ★★ 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/bscl2-p-gly44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown