BRIP1 c.1475del
Likely pathogenic
Single submitter
Classification
Likely pathogenic
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 -0.49 | GERP -4.2, phastCons 0.14 |
| Non-coding constraint | Z 3.57 | 1 kb window · o/e 0.76 · regional · uncalibrated |
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
- Coding
- c.1475del
- MANE Select
- NM_032043
- dbSNP
- rs869312762
- Type
- Deletion
- Location
- chr17:61784423 (GRCh38)
- Gene constraint
- LOEUF 0.848 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.19 · 6 PDB
Similar variants
- BRIP1 c.1629-3_1634del Likely pathogenic ★★ same condition
- BRIP1 c.1936del Pathogenic ★★ same condition
- BRIP1 c.205+1del Pathogenic/Likely pathogenic ★★ same condition
- BRIP1 c.2257+2_2257+8del Likely pathogenic ★★ same condition
- BRIP1 c.2370_2379+20del Likely pathogenic ★★ same condition
- BRIP1 c.2492_2492+5del Likely pathogenic ★★ same condition
- BRIP1 c.2492+1del Likely pathogenic ★★ same condition
- BRIP1 c.628-5_629del 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-c-1475del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown