Is DLL4 p.Phe89del (c.265_267del) pathogenic?

DLL4 p.Phe89del (c.265267del) is classified Uncertain significance in DLL4 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-12-01). Absent from gnomAD; Associated with Adams-Oliver syndrome 6.

What condition is associated with DLL4 p.Phe89del (c.265_267del)?

DLL4 p.Phe89del (c.265_267del) is associated with Adams-Oliver syndrome 6 (ClinVar).

How common is DLL4 p.Phe89del (c.265_267del) in the general population?

DLL4 p.Phe89del (c.265_267del) is absent from gnomAD (gnomAD).

DLL4 p.Phe89del

c.265_267del · rs1555392837 · VCV523604

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Adams-Oliver syndrome 6

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 2.2, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DLL4
Protein: p.Phe89del
Coding: c.265_267del
MANE Select: NM_019074
dbSNP: rs1555392837
Type: Deletion
Location: chr15:40930044 (GRCh38)
Gene constraint: LOEUF 0.197 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 74.89 · 1 PDB
Residue 89: a β-strand

Full DLL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Adams-Oliver syndrome 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DLL4 p.Pro621fs Pathogenic ★ same condition
DLL4 p.Cys390Tyr Pathogenic/Likely pathogenic ★★ same condition
DLL4 p.Cys466Arg Likely pathogenic ★★ same condition
DLL4 p.Gln584Ter Pathogenic/Likely pathogenic ★★ same condition
DLL4 c.1240+5G>A Likely pathogenic ★ same condition
DLL4 p.Ala121Pro Pathogenic ★ ⚠ same condition
DLL4 p.Arg186Cys Pathogenic ★ same condition
DLL4 p.Arg558Ter 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/dll4-p-phe89del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown