BARD1 c.*167A>G
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 77%, afr) — too common for a highly-penetrant pathogenic allele
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 -7.9 | GERP -2.8 |
| Overall | ||
| CADD | 1.753 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
77%
African / African-American · 42,139/54,738 alleles
Filtering AF
76.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 76.1%
Overall
60.8%
410,431/674,652 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 77% | 1 |
| Finnishnot grpmax-eligible | 67.7% | 1 |
| Amishnot grpmax-eligible | 61.9% | 2 |
| European (non-Finnish) | 61.1% | 2 |
| Remaining individualsnot grpmax-eligible | 59.9% | 2 |
| South Asian | 56.7% | 2 |
| Ashkenazi Jewishnot grpmax-eligible | 55.6% | 2 |
| Middle Eastern | 52.8% | 2 |
| Admixed American | 51.7% | 2 |
| East Asian | 44.3% | 2 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- BARD1
- Coding
- c.*167A>G
- MANE Select
- NM_000465
- dbSNP
- rs5020511
- Type
- single nucleotide variant
- Location
- chr2:214728509 (GRCh38)
- Gene constraint
- LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.82 · 11 PDB
Similar variants
- BARD1 c.1314+1G>A Pathogenic/Likely pathogenic ★★ same type
- BARD1 c.1314+1G>T Likely pathogenic ★★ same type
- BARD1 c.1396-1G>A Likely pathogenic ★★ same type
- BARD1 c.1396-1G>C Likely pathogenic ★★ same type
- BARD1 c.1396-1G>T Likely pathogenic ★★ same type
- BARD1 c.1396-2A>C Likely pathogenic ★★ same type
- BARD1 c.1568+1G>A Likely pathogenic ★★ same type
- BARD1 c.1568+1G>T Likely pathogenic ★★ same type
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-c-star-167a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown