BRCA1 p.Phe984del
c.2950_2952del · VCV3261484
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 2.6 | GERP 1.5, phastCons 1 |
Variant & gene context
- Gene
- BRCA1
- Protein
- p.Phe984del
- Coding
- c.2950_2952del
- MANE Select
- NM_007294
- Type
- Deletion
- Location
- chr17:43092579 (GRCh38)
- Gene constraint
- LOEUF 0.885 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 41.99 · 33 PDB
- Residue 984
- a UniProt-annotated variant site (in fancs)
Similar variants
- BRCA1 p.Phe984fs Pathogenic ★★★ same residue
- BRCA1 p.Phe984Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRCA1 p.Phe984Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRCA1 p.Phe984= Likely benign ★ same residue
- BRCA1 c.302-2del Pathogenic ★★★ same condition
- BRCA1 c.442-22_442-13del Pathogenic ★★★ same condition
- BRCA1 c.5277+1_5277+6del Pathogenic ★★★ same condition
- BRCA1 c.5333-36_5406+400del 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/brca1-p-phe984del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown