BRCA2 p.Ala1825=
c.5475A>G · rs2137517867 · VCV3046848
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
BRCA2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP 1.3, phastCons 0.073 |
| Overall | ||
| CADD | 4.144 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BRCA2
- Protein
- p.Ala1825=
- Coding
- c.5475A>G
- MANE Select
- NM_000059
- dbSNP
- rs2137517867
- Type
- single nucleotide variant
- Location
- chr13:32339830 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Residue 1825
- the 'interaction with rad51' region
Similar variants
- BRCA2 p.Ala1825Val Benign/Likely benign ★★ same residue
- BRCA2 p.Ala1825Gly Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRCA2 p.Ala1825Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRCA2 p.Ala1825fs Pathogenic ★★★ same residue
- BRCA2 c.6938-1G>A Pathogenic/Likely pathogenic ★★ same condition
- BRCA2 c.8754+1G>T Pathogenic/Likely pathogenic ★★ same condition
- BRCA2 p.Arg2336Pro Pathogenic/Likely pathogenic ★★ ⚠ same condition
- BRCA2 p.Arg2659Lys 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-ala1825 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown