BSND p.Ala262fs
c.784del · rs2100209749 · VCV1686527
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 in the last exon (4 of 4) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.2 | GERP -2.3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- BSND
- Protein
- p.Ala262fs
- Coding
- c.784del
- MANE Select
- NM_057176
- dbSNP
- rs2100209749
- Type
- Deletion
- Location
- chr1:55008449 (GRCh38)
- Gene constraint
- LOEUF 1.03 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 53.80
- Residue 262
- a UniProt-annotated variant site (in barts4a); a UniProt-annotated variant site (in barts4a; loss of clcnka and clcnkb channel conductance); a UniProt-annotated variant site (in barts4a; abolishes the preferential sorting at the basolateral membrane domain; no effect on ion conductance); the 'disordered' region
Similar variants
- BSND p.Ala262= Likely benign ★ same residue
- BSND c.157_177+20del Pathogenic/Likely pathogenic ★★ same type
- BSND p.Gly48fs Pathogenic/Likely pathogenic ★★ same type
- BSND p.Tyr107fs Pathogenic/Likely pathogenic ★★ same type
- BSND p.Ala156fs Likely pathogenic ★ same type
- BSND p.Gln118fs Likely pathogenic ★ same type
- BSND p.Lys59fs Pathogenic ★ same type
- BSND p.Ser74fs 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/bsnd-p-ala262fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown