BRCA2 p.Ser496Ala
c.1485_1486delinsGG · VCV3825458
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 -0.096 | GERP -4, phastCons 0.001 |
| Regional constraint | o/e 1.03 | unconstrained · MANE · 47 kb · p 0.059 · regional, not allelic |
Variant & gene context
- Gene
- BRCA2
- Protein
- p.Ser496Ala
- Coding
- c.1485_1486delinsGG
- MANE Select
- NM_000059
- Type
- Indel
- Location
- chr13:32332963 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Similar variants
- BRCA2 p.Ser496Phe Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRCA2 p.Ser496Tyr Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRCA2 c.1587delinsCA Pathogenic ★★★ same condition
- BRCA2 c.8954-1_8955delinsAA Pathogenic ★★★ same condition
- BRCA2 p.Arg2799fs Pathogenic ★★★ same condition
- BRCA2 p.Glu1608fs Pathogenic ★★★ same condition
- BRCA2 p.Glu2856fs Pathogenic ★★★ same condition
- BRCA2 p.Leu1578fs 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-ser496ala (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown