BARD1 p.His471=
c.1413T>C · rs1574789071 · VCV819153
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
hereditary breast carcinoma
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 -7.4 | GERP -0.37 |
| Overall | ||
| CADD | 0.243 | 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
- BARD1
- Protein
- p.His471=
- Coding
- c.1413T>C
- MANE Select
- NM_000465
- dbSNP
- rs1574789071
- Type
- single nucleotide variant
- Location
- chr2:214767637 (GRCh38)
- Gene constraint
- LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.82 · 11 PDB
Disease context
hereditary breast carcinoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: hereditary neoplastic syndrome
For Hereditary breast cancer (Orphanet):
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Onset
- Adult, Elderly
Similar variants
- BARD1 p.His471Arg Uncertain significance ★★ ⚠ same residue
- BARD1 p.His471Pro Uncertain significance ★★ ⚠ same residue
- BARD1 p.His471Tyr Uncertain significance ★★ ⚠ same residue
- BARD1 p.His471Asp Uncertain significance ★ ⚠ same residue
- BARD1 p.His471Leu Uncertain significance ★ ⚠ same residue
- BARD1 c.1314+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BARD1 c.1314+1G>T Likely pathogenic ★★ same condition
- BARD1 c.1396-1G>A 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-his471 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown