BAG6 p.Glu2=
c.6G>A · rs73728965 · VCV786083
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.44%, afr)
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 1.1 | GERP -3.3, phastCons 1 |
| Overall | ||
| CADD | 11.76 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.44%
African / African-American · 1,828/75,026 alleles
Filtering AF
2.34%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.31%
Overall
0.129%
2,079/1,612,974 alleles · low-frequency
exomes 985/1,460,686 · genomes 1,094/152,288 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.44% | 41 |
| Admixed American | 0.207% | 484 |
| Remaining individualsnot grpmax-eligible | 0.162% | 619 |
| Middle Eastern | 0.033% | 3,029 |
| South Asian | 0.011% | 9,108 |
| European (non-Finnish) | 0.00119% | 84,283 |
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
- BAG6
- Protein
- p.Glu2=
- Coding
- c.6G>A
- MANE Select
- NM_001387994
- dbSNP
- rs73728965
- Type
- single nucleotide variant
- Location
- chr6:31651758 (GRCh38)
- Gene constraint
- LOEUF 0.265 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 58.52 · 10 PDB
Similar variants
- BAG6 p.Gln1137Glu Uncertain significance ★★ ⚠ same type
- BAG6 p.Ala1101Val Uncertain significance ★ ⚠ same type
- BAG6 p.Ala261Val Uncertain significance ★ ⚠ same type
- BAG6 p.Arg1027Trp Uncertain significance ★ ⚠ same type
- BAG6 p.Arg1099Trp Uncertain significance ★ ⚠ same type
- BAG6 p.Arg1107Gln Uncertain significance ★ ⚠ same type
- BAG6 p.Arg1133Gln Uncertain significance ★ ⚠ same type
- BAG6 p.Arg1150Cys Uncertain significance ★ ⚠ 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/bag6-p-glu2 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown