DIP2C p.Asp382fs
c.1145_1148del · VCV4851595
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Thin upper lip vermilion
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 9 of 37 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DIP2C
- Protein
- p.Asp382fs
- Coding
- c.1145_1148del
- MANE Select
- NM_014974
- Type
- Deletion
- Location
- chr10:408927 (GRCh38)
- Gene constraint
- LOEUF 0.235 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 79.64
Similar variants
- DIP2C p.Asn390fs Likely pathogenic ★ same type
- DIP2C p.His1467fs Likely pathogenic ★ same type
- DIP2C p.Tyr1385fs Pathogenic ★ same type
- DIP2C c.1260+6del Uncertain significance ★ same type
- DIP2C c.3454-80_3454-11del Uncertain significance ★ same type
- DIP2C p.Arg824fs Uncertain significance ★ same type
- DIP2C p.Glu897fs Uncertain significance ★ same type
- DIP2C p.Ile1305fs 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/dip2c-p-asp382fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown