BDP1 p.Ser1915fs
c.5743del · VCV4687865
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
hearing loss, autosomal recessive 112
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 25 of 39 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.2 | GERP 4.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BDP1
- Protein
- p.Ser1915fs
- Coding
- c.5743del
- MANE Select
- NM_018429
- Type
- Deletion
- Location
- chr5:71524292 (GRCh38)
- Gene constraint
- LOEUF 0.683 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 37.23 · 13 PDB
Similar variants
- BDP1 p.Arg935Ile Uncertain significance ★★ ⚠ same condition
- BDP1 c.2373-15C>T Benign/Likely benign ★★ same condition
- BDP1 c.4060-77G>A Benign ★★ same condition
- BDP1 c.5893-36G>A Benign ★★ same condition
- BDP1 p.Asp38Glu Benign ★★ same condition
- BDP1 p.Gly1180Ser Benign ★★ same condition
- BDP1 p.Ile1264Met Benign ★★ same condition
- BDP1 p.Ile2013Leu Benign ★★ 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/bdp1-p-ser1915fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown