BRCA2 p.Arg2659=
c.7977A>G · VCV3572367
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 1.7 | GERP -1.5, phastCons 1 |
| Overall | ||
| CADD | 6.239 | 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.Arg2659=
- Coding
- c.7977A>G
- MANE Select
- NM_000059
- Type
- single nucleotide variant
- Location
- chr13:32363179 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Residue 2659
- a UniProt-annotated variant site (in bc; uncertain significance); the 'interaction with sem1' region
Similar variants
- BRCA2 p.Arg2659Gly Pathogenic ★★★ same residue
- BRCA2 p.Arg2659Thr Pathogenic ★★★ same residue
- BRCA2 p.Arg2659Lys Pathogenic ★★ same residue
- BRCA2 p.Arg2659Ile Uncertain significance ★★ ⚠ same residue
- BRCA2 p.Arg2659Ser Likely pathogenic ★ same residue
- BRCA2 c.316+1G>T Pathogenic ★★★ same type
- BRCA2 c.316+2T>C Pathogenic ★★★ same type
- BRCA2 c.316+5G>A 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-arg2659 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown