BRIP1 p.Pro812fs
c.2429_2432dup · VCV3382392
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
Fanconi anemia complementation group J
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 17 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.2 | GERP 0.83, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BRIP1
- Protein
- p.Pro812fs
- Coding
- c.2429_2432dup
- MANE Select
- NM_032043
- Type
- Duplication
- Location
- chr17:61716010 (GRCh38)
- Gene constraint
- LOEUF 0.848 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.19 · 6 PDB
Similar variants
- BRIP1 p.Pro812Arg Uncertain significance ★★ ⚠ same residue
- BRIP1 p.Pro812Ser Uncertain significance ★★ ⚠ same residue
- BRIP1 p.Pro812Thr Uncertain significance ★★ ⚠ same residue
- BRIP1 p.Pro812= Likely benign ★★ same residue
- BRIP1 p.Pro812His Uncertain significance ★ ⚠ same residue
- BRIP1 p.Pro812Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRIP1 c.2492+2dup Pathogenic/Likely pathogenic ★★ same condition
- BRIP1 p.Ala27fs Pathogenic/Likely 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/brip1-p-pro812fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown