PROM1 p.Pro337fs
c.1009_1016del · VCV4966700
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
PROM1-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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.011 | GERP -3.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PROM1
- Protein
- p.Pro337fs
- Coding
- c.1009_1016del
- MANE Select
- NM_006017
- Type
- Deletion
- Location
- chr4:16016227 (GRCh38)
- Gene constraint
- LOEUF 1.104 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.68
Disease context
PROM1-related disorder
Similar variants
- PROM1 c.2130+2del Pathogenic/Likely pathogenic ★★ same condition
- PROM1 p.Asn566fs Pathogenic/Likely pathogenic ★★ same condition
- PROM1 p.Lys513fs Pathogenic/Likely pathogenic ★★ same condition
- PROM1 p.Thr208fs Pathogenic/Likely pathogenic ★★ same condition
- PROM1 p.Tyr412fs Pathogenic/Likely pathogenic ★★ same condition
- PROM1 c.2489_2489+5del Likely pathogenic ★ same condition
- PROM1 p.Gln147fs Likely pathogenic ★ same condition
- PROM1 p.Ile626fs 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/prom1-p-pro337fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown