CARM1 p.Val226=
c.678G>A · rs114556688 · VCV783826
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.58%, 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 5 | GERP -0.57, phastCons 1 |
| Overall | ||
| CADD | 13.25 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.58%
African / African-American · 2,684/74,998 alleles
Filtering AF
3.47%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.42%
Overall
0.183%
2,953/1,612,242 alleles · low-frequency
exomes 1,428/1,459,890 · genomes 1,525/152,352 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.58% | 28 |
| Remaining individualsnot grpmax-eligible | 0.232% | 431 |
| Admixed American | 0.184% | 543 |
| Middle Eastern | 0.0496% | 2,017 |
| South Asian | 0.0033% | 30,329 |
| European (non-Finnish) | 0.000678% | 147,410 |
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
- CARM1
- Protein
- p.Val226=
- Coding
- c.678G>A
- MANE Select
- NM_199141
- dbSNP
- rs114556688
- Type
- single nucleotide variant
- Location
- chr19:10913885 (GRCh38)
- Gene constraint
- LOEUF 0.353 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 80.20 · 33 PDB
- Residue 226
- the sam-dependent mtase prmt-type domain; an α-helix
Similar variants
- CARM1 p.Ala15Val Uncertain significance ★ ⚠ same type
- CARM1 p.Ala202Ser Uncertain significance ★ ⚠ same type
- CARM1 p.Ala212Thr Uncertain significance ★ ⚠ same type
- CARM1 p.Ala428Thr Uncertain significance ★ ⚠ same type
- CARM1 p.Ala525Val Uncertain significance ★ ⚠ same type
- CARM1 p.Ala55Glu Uncertain significance ★ ⚠ same type
- CARM1 p.Ala566Thr Uncertain significance ★ ⚠ same type
- CARM1 p.Ala62Ser 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/carm1-p-val226 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown