CACNA1G p.Arg1237=
c.3711C>T · rs186250346 · VCV717514
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.401%, 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 0.048 | GERP -3.3, phastCons 0.11 |
| Overall | ||
| CADD | 1.509 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.401%
African / African-American · 301/74,992 alleles
Filtering AF
0.364%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.349%
Overall
0.0268%
433/1,613,762 alleles · rare
exomes 228/1,461,588 · genomes 205/152,174 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.401% | 249 |
| Admixed American | 0.0583% | 1,715 |
| Middle Eastern | 0.0495% | 2,021 |
| Remaining individualsnot grpmax-eligible | 0.0368% | 2,717 |
| East Asian | 0.0201% | 4,985 |
| Finnishnot grpmax-eligible | 0.00625% | 15,993 |
| European (non-Finnish) | 0.00492% | 20,341 |
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
- CACNA1G
- Protein
- p.Arg1237=
- Coding
- c.3711C>T
- MANE Select
- NM_018896
- dbSNP
- rs186250346
- Type
- single nucleotide variant
- Location
- chr17:50600746 (GRCh38)
- Gene constraint
- LOEUF 0.406 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 59.36 · 2 PDB
Similar variants
- CACNA1G p.Arg1237Cys Uncertain significance ★ ⚠ same residue
- CACNA1G p.Arg1237His Uncertain significance ★ ⚠ same residue
- CACNA1G p.Arg1237Ser Uncertain significance ★ same residue
- CACNA1G p.Ala961Thr Pathogenic ★★ same type
- CACNA1G p.Arg1715His Pathogenic/Likely pathogenic ★★ same type
- CACNA1G p.Met1531Val Pathogenic ★★ same type
- CACNA1G c.2979+1G>T Uncertain significance ★★ same type
- CACNA1G p.Ala1021= 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/cacna1g-p-arg1237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown