CLIC5 p.Asp179fs
c.535del · VCV3601021
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
autosomal recessive nonsyndromic hearing loss 103
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 5 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CLIC5
- Protein
- p.Asp179fs
- Coding
- c.535del
- MANE Select
- NM_016929
- Type
- Deletion
- Location
- chr6:45914281 (GRCh38)
- Gene constraint
- LOEUF 1.233 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.06 · 3 PDB
- Residue 179
- a β-strand
Similar variants
- CLIC5 p.Asp179Gly Uncertain significance ★ ⚠ same residue
- CLIC5 p.Arg79Ser Benign/Likely benign ★★ same condition
- CLIC5 p.Asn112Asp Conflicting classifications of pathogenicity ★ ⚠ same condition
- CLIC5 p.Asn134Ser Uncertain significance ★ ⚠ same condition
- CLIC5 p.Cys32Ter Pathogenic same condition
- CLIC5 p.Gly140_Leu141insTer Uncertain significance ★ 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/clic5-p-asp179fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown