BSND
Chr 1ARbarttin CLCNK type accessory subunit beta
Also known as: BART, DFNB73
The protein encoded by this gene is an essential regulatory subunit for chloride channels in the kidney and inner ear, functioning as a chaperone that enables proper channel sorting and constitutive opening for basolateral chloride conductance. Mutations cause autosomal recessive Bartter syndrome type 4a with sensorineural deafness, affecting both renal salt wasting and hearing function. The gene shows very low constraint against loss-of-function variants (pLI ~0, LOEUF 1.78), consistent with recessive inheritance where heterozygous carriers are unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
433 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 12 | 4 | 11 | 0 | 27 |
Likely Pathogenic | 18 | 5 | 5 | 0 | 28 |
VUS | 7 | 111 | 11 | 3 | 132 |
Likely Benign | 1 | 4 | 47 | 144 | 196 |
Benign | 0 | 0 | 22 | 2 | 24 |
Conflicting | — | 25 | |||
| Total | 38 | 124 | 96 | 149 | 432 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BSND · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools