BRCA2 p.Pro365fs
c.1094del · VCV3257736
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
breast-ovarian cancer, familial, susceptibility to, 1
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 27 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.16 | GERP -1.3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BRCA2
- Protein
- p.Pro365fs
- Coding
- c.1094del
- MANE Select
- NM_000059
- Type
- Deletion
- Location
- chr13:32332571 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Residue 365
- the 'disordered' region
Disease context
breast-ovarian cancer, familial, susceptibility to, 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary breast and/or ovarian cancer syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adult, Elderly
Similar variants
- BRCA2 p.Pro365_Asp367del Uncertain significance ★ same residue
- BRCA2 c.5217_5224del Pathogenic ★★★ same condition
- BRCA2 p.Ala938Profs Pathogenic ★★★ same condition
- BRCA2 p.Arg2892fs Pathogenic ★★★ same condition
- BRCA2 p.Asn2135fs Pathogenic ★★★ same condition
- BRCA2 p.Glu1646fs Pathogenic ★★★ same condition
- BRCA2 p.Glu1811fs Pathogenic ★★★ same condition
- BRCA2 p.Ile2177fs 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-pro365fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown