BRCA2 p.Ser976Ile
c.2926_2927delinsAT · rs276174831 · VCV51372
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 18 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
5
BRCA2-related cancer predisposition
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 0.6 | GERP 1.5 |
| Regional constraint | o/e 1.03 | unconstrained · MANE · 47 kb · p 0.059 · 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
- BRCA2
- Protein
- p.Ser976Ile
- Coding
- c.2926_2927delinsAT
- MANE Select
- NM_000059
- dbSNP
- rs276174831
- Type
- Indel
- Location
- chr13:32337281 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Residue 976
- the 'interaction with npm1' region; a UniProt-annotated variant site (in)
Similar variants
- BRCA2 p.Ser976_Leu977insTer Pathogenic ★★★ same residue
- BRCA2 p.Ser976del Uncertain significance ★★ same residue
- BRCA2 p.Ser976= Likely benign ★★ same residue
- BRCA2 p.Ser976Phe Benign/Likely benign ★★ same residue
- BRCA2 p.Ser976Thr Benign/Likely benign ★★ same residue
- BRCA2 p.Ser976fs Pathogenic ★ same residue
- BRCA2 c.1587delinsCA Pathogenic ★★★ same condition
- BRCA2 c.277_317-726delinsCCAT 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-ser976ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown