BARD1 p.Ser37fs
c.110del · VCV3726982
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
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. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.3 | GERP -0.079, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BARD1
- Protein
- p.Ser37fs
- Coding
- c.110del
- MANE Select
- NM_000465
- Type
- Deletion
- Location
- chr2:214809460 (GRCh38)
- Gene constraint
- LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.82 · 11 PDB
- Residue 37
- 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.Ser37Gly Uncertain significance ★★ ⚠ same residue
- BARD1 p.Ser37Thr Uncertain significance ★★ ⚠ same residue
- BARD1 p.Ser37= Likely benign ★ same residue
- BARD1 c.1306_1314+7del Likely pathogenic ★★ same condition
- BARD1 c.158+2_158+10del Likely pathogenic ★★ same condition
- BARD1 c.1676_1677+23del Likely pathogenic ★★ same condition
- BARD1 c.1678-1_1678del Likely pathogenic ★★ same condition
- BARD1 c.1865_1903+274del Likely 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/bard1-p-ser37fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown