BRCA2 p.Val2109fs
c.6324dup · VCV4532830
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 11 of 27 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.37 | GERP -1.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BRCA2
- Protein
- p.Val2109fs
- Coding
- c.6324dup
- MANE Select
- NM_000059
- Type
- Duplication
- Location
- chr13:32340678 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Similar variants
- BRCA2 p.Val2109= Likely benign ★★★ same residue
- BRCA2 p.Val2109Ile Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRCA2 p.Val2109Leu Uncertain significance ★ ⚠ same residue
- BRCA2 p.Val2109Phe Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRCA2 c.1448_1451dupCAGT Pathogenic ★★★ same type
- BRCA2 c.6081dupA Pathogenic ★★★ same type
- BRCA2 c.6396dupA Pathogenic ★★★ same type
- BRCA2 c.6528_6535dup 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-p-val2109fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown