BARD1 p.Ala39Phe
c.115_116delinsTT · VCV3656753
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary breast carcinoma
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 3 | GERP -0.81, phastCons 1 |
| Regional constraint | o/e 1.06 | unconstrained · MANE · 81 kb · p 0.077 · regional, not allelic |
Variant & gene context
- Gene
- BARD1
- Protein
- p.Ala39Phe
- Coding
- c.115_116delinsTT
- MANE Select
- NM_000465
- Type
- Indel
- Location
- chr2:214809454 (GRCh38)
- Gene constraint
- LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.82 · 11 PDB
- Residue 39
- an α-helix; the 'interaction with brca1' region
Disease context
hereditary breast carcinoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary breast cancer (Orphanet):
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Onset
- Adult, Elderly
Similar variants
- BARD1 p.Ala39Thr Uncertain significance ★★ ⚠ same residue
- BARD1 p.Ala39Val Uncertain significance ★★ ⚠ same residue
- BARD1 p.Ala39= Benign/Likely benign ★★ same residue
- BARD1 p.Ala25fs Pathogenic ★★ same condition
- BARD1 p.Glu317fs Pathogenic/Likely pathogenic ★★ same condition
- BARD1 p.Val422fs Pathogenic/Likely pathogenic ★★ same condition
- BARD1 p.Asp135Phe Uncertain significance ★★ same condition
- BARD1 p.Glu649Leu Uncertain significance ★★ 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/bard1-p-ala39phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown