BRIP1 p.Pro931Arg
c.2791_2792delinsAG · rs2544571166 · VCV1796051
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 5 | GERP 1.3, phastCons 1 |
| Regional constraint | o/e 0.84 | unconstrained · MANE · 110 kb · p 3.3e-06 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- BRIP1
- Protein
- p.Pro931Arg
- Coding
- c.2791_2792delinsAG
- MANE Select
- NM_032043
- dbSNP
- rs2544571166
- Type
- Indel
- Location
- chr17:61685949 (GRCh38)
- Gene constraint
- LOEUF 0.848 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.19 · 6 PDB
- Residue 931
- the 'interaction with brca1' region
Similar variants
- BRIP1 p.Pro931Gln Uncertain significance ★★ ⚠ same residue
- BRIP1 p.Pro931Leu Uncertain significance ★★ ⚠ same residue
- BRIP1 p.Pro931Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRIP1 c.204_205+1delinsAGT Likely pathogenic ★★ same condition
- BRIP1 c.2398_2400delinsATTTG Pathogenic/Likely pathogenic ★★ same condition
- BRIP1 p.His715fs Pathogenic/Likely pathogenic ★★ same condition
- BRIP1 p.Leu372fs Pathogenic ★★ same condition
- BRIP1 p.Ser66fs 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-pro931arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown