BSND p.Glu277=
c.831G>A · rs143916830 · VCV1114899
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0533%, afr)
Conditions
1
Bartter disease type 4A
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 0.17 | GERP -0.88, phastCons 0.013 |
| Overall | ||
| CADD | 1.699 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0533%
African / African-American · 40/75,076 alleles
Filtering AF
0.0401%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0356%
Overall
0.00254%
41/1,614,250 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0533% | 1,877 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,508 |
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
- BSND
- Protein
- p.Glu277=
- Coding
- c.831G>A
- MANE Select
- NM_057176
- dbSNP
- rs143916830
- Type
- single nucleotide variant
- Location
- chr1:55008496 (GRCh38)
- Gene constraint
- LOEUF 1.03 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 53.80
- Residue 277
- 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 c.272+1G>T Pathogenic/Likely pathogenic ★★ same condition
- BSND p.Arg8Trp Pathogenic/Likely pathogenic ★★ same condition
- BSND p.Glu4Ter Pathogenic ★★ same condition
- BSND p.Glu88Ter Pathogenic/Likely pathogenic ★★ same condition
- BSND p.Gly10Ser Pathogenic/Likely pathogenic ★★ ⚠ same condition
- BSND p.Gly47Arg Pathogenic/Likely pathogenic ★★ same condition
- BSND p.Ile12Thr Pathogenic ★★ same condition
- BSND p.Met1Ile 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/bsnd-p-glu277 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown