SERPING1 p.Ser176fs
c.527del · VCV4911657
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
SERPING1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP 0.23, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SERPING1
- Protein
- p.Ser176fs
- Coding
- c.527del
- MANE Select
- NM_000062
- Type
- Deletion
- Location
- chr11:57600354 (GRCh38)
- Gene constraint
- LOEUF 0.278 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 80.63 · 5 PDB
- Residue 176
- an α-helix
Disease context
SERPING1-related disorder
Similar variants
- SERPING1 p.Ala373fs Likely pathogenic ★ same condition
- SERPING1 p.Asn272fs Pathogenic ★ same condition
- SERPING1 p.Leu353fs Likely pathogenic ★ same condition
- SERPING1 p.Pro489fs Likely pathogenic ★ same condition
- SERPING1 c.-99delC Likely benign same condition
- SERPING1 c.551-2A>G Pathogenic ★★ same condition
- SERPING1 c.686-2A>G Likely pathogenic ★★ same condition
- SERPING1 c.890-14C>G 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/serping1-p-ser176fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown