DLL3 p.Leu68fs
c.201del · rs776960175 · VCV2701337
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 7.483e-07)
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 2 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -8.8 | GERP -1.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
7.48e-05%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- DLL3
- Protein
- p.Leu68fs
- Coding
- c.201del
- MANE Select
- NM_203486
- dbSNP
- rs776960175
- Type
- Deletion
- Location
- chr19:39499321 (GRCh38)
- Gene constraint
- LOEUF 1.512 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.42
Similar variants
- DLL3 p.Ala317fs Pathogenic/Likely pathogenic ★★ same type
- DLL3 p.Cys207fs Pathogenic ★★ same type
- DLL3 p.Gly132fs Pathogenic ★★ same type
- DLL3 p.Gly201fs Pathogenic/Likely pathogenic ★★ same type
- DLL3 p.Ile123fs Pathogenic/Likely pathogenic ★★ same type
- DLL3 p.Ala81fs Likely pathogenic ★ same type
- DLL3 p.Arg294fs Pathogenic ★ same type
- DLL3 p.Cys455fs Pathogenic ★ 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/dll3-p-leu68fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown