CARD10 p.Asn276=
c.828T>C · rs576345404 · VCV3046876
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0207%, 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 -8.3 | GERP -2.8 |
| Overall | ||
| CADD | 0.104 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0207%
African / African-American · 15/72,586 alleles
Filtering AF
0.0127%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0103%
Overall
0.00543%
87/1,601,924 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0207% | 4,839 |
| Middle Eastern | 0.0165% | 6,044 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,909 |
| South Asian | 0.0055% | 18,186 |
| European (non-Finnish) | 0.00501% | 19,965 |
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
- CARD10
- Protein
- p.Asn276=
- Coding
- c.828T>C
- MANE Select
- NM_014550
- dbSNP
- rs576345404
- Type
- single nucleotide variant
- Location
- chr22:37510293 (GRCh38)
- Gene constraint
- LOEUF 0.678 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.22
- Residue 276
- the 'disordered' region
Similar variants
- CARD10 p.Thr436Met Uncertain significance ★★ ⚠ same type
- CARD10 p.Ala382Thr Benign ★★ same type
- CARD10 p.Glu327= Likely benign ★★ same type
- CARD10 p.Ile940= Benign/Likely benign ★★ same type
- CARD10 p.Lys514Arg Benign ★★ same type
- CARD10 p.Thr383= Benign ★★ same type
- CARD10 p.Arg420Cys Likely pathogenic ★ ⚠ same type
- CARD10 c.2864+2T>G 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/card10-p-asn276 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown