BRCA2 p.Asp293del
c.879_881del · VCV4628757
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary neoplastic syndrome
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 3.8 | GERP -3.2, phastCons 1 |
Variant & gene context
- Gene
- BRCA2
- Protein
- p.Asp293del
- Coding
- c.879_881del
- MANE Select
- NM_000059
- Type
- Deletion
- Location
- chr13:32332355 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Similar variants
- BRCA2 p.Asp293Tyr Uncertain significance ★ ⚠ same residue
- BRCA2 c.5217_5224del Pathogenic ★★★ same condition
- BRCA2 c.8312del Pathogenic ★★★ same condition
- BRCA2 c.8633-24_8634del Pathogenic ★★★ same condition
- BRCA2 c.8756del Pathogenic ★★★ same condition
- BRCA2 c.9403del Pathogenic ★★★ same condition
- BRCA2 p.Ala1109fs Pathogenic ★★★ same condition
- BRCA2 p.Ala1797fs 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/brca2-p-asp293del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown