CACNB2 p.Phe305=
c.915T>C · rs149586418 · VCV190715
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 7 submitters
gnomAD v4.1
Rare
rare (popmax 0.878%, afr)
Conditions
2
Cardiovascular phenotype
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 -0.38 | GERP -1.8, phastCons 0.26 |
| Overall | ||
| CADD | 8.718 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.878%
African / African-American · 659/75,050 alleles
Filtering AF
0.823%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.8%
Overall
0.0477%
770/1,614,018 alleles · rare
exomes 373/1,461,684 · genomes 397/152,334 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.878% | 114 |
| Admixed American | 0.0683% | 1,464 |
| Middle Eastern | 0.066% | 1,515 |
| Remaining individualsnot grpmax-eligible | 0.0624% | 1,603 |
| South Asian | 0.00439% | 22,769 |
| European (non-Finnish) | 0.00195% | 51,300 |
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
- CACNB2
- Protein
- p.Phe305=
- Coding
- c.915T>C
- MANE Select
- NM_201596
- dbSNP
- rs149586418
- Type
- single nucleotide variant
- Location
- chr10:18518939 (GRCh38)
- Gene constraint
- LOEUF 0.77 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.78 · 3 PDB
- Residue 305
- an α-helix
Similar variants
- CACNB2 c.1206+5G>A Uncertain significance ★★ same condition
- CACNB2 c.1303-3C>T Uncertain significance ★★ same condition
- CACNB2 c.1488+6G>A Uncertain significance ★★ same condition
- CACNB2 p.Ala105Thr Uncertain significance ★★ ⚠ same condition
- CACNB2 p.Ala118Val Uncertain significance ★★ ⚠ same condition
- CACNB2 p.Ala128Val Uncertain significance ★★ ⚠ same condition
- CACNB2 p.Ala139Ser Uncertain significance ★★ ⚠ same condition
- CACNB2 p.Ala229Asp 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/cacnb2-p-phe305 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown