BRCA2 c.7976+1del
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
canonical splice-site (±1/±2)
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | canonical splice-site (±1/±2) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| Splicing | ||
| Splice region | donor +1 | canonical splice dinucleotide (donor +1) · inside the BP7-excluded zone |
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.2, phastCons 1 |
| Non-coding constraint | Z -0.74 | 1 kb window · o/e 1.06 · regional · uncalibrated |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BRCA2
- Coding
- c.7976+1del
- MANE Select
- NM_000059
- Type
- Deletion
- Location
- chr13:32362693 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Similar variants
- BRCA2 c.316+4del Pathogenic ★★★ same type
- BRCA2 c.5217_5224del Pathogenic ★★★ same type
- BRCA2 c.68-?_316+?del Pathogenic ★★★ same type
- BRCA2 c.7008-?_7805+?del Pathogenic ★★★ same type
- BRCA2 c.7980_7984delTGATA Pathogenic ★★★ same type
- BRCA2 c.8312del Pathogenic ★★★ same type
- BRCA2 c.8488_8489del Pathogenic ★★★ same type
- BRCA2 c.8633-24_8634del 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/brca2-c-7976-plus-1del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown