CARD10 p.Pro839=
c.2517G>A · rs377009692 · VCV3044055
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.77%, sas)
Conditions
1
CARD10-related disorder
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 -16 | GERP -2.6 |
| Overall | ||
| CADD | 0.179 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.77%
South Asian · 2,527/91,070 alleles
Filtering AF
2.68%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.65%
Overall
0.167%
2,695/1,612,794 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 2.77% | 36 |
| Remaining individualsnot grpmax-eligible | 0.2% | 500 |
| Middle Eastern | 0.0495% | 2,019 |
| African / African-American | 0.012% | 8,337 |
| Admixed American | 0.00333% | 30,000 |
| European (non-Finnish) | 0.00237% | 42,139 |
| East Asian | 0.00223% | 44,870 |
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.Pro839=
- Coding
- c.2517G>A
- MANE Select
- NM_014550
- dbSNP
- rs377009692
- Type
- single nucleotide variant
- Location
- chr22:37492762 (GRCh38)
- Gene constraint
- LOEUF 0.678 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.22
Disease context
CARD10-related disorder
Similar variants
- CARD10 p.Ala1032Asp Uncertain significance ⚠ same condition
- CARD10 p.Glu1019Gln Uncertain significance ⚠ same condition
- CARD10 c.1383+7G>A Likely benign same condition
- CARD10 c.2477-7G>C Likely benign same condition
- CARD10 c.910-6C>T Benign same condition
- CARD10 p.Ala528= Benign same condition
- CARD10 p.Ala7= Likely benign same condition
- CARD10 p.Ala704= Likely benign 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/card10-p-pro839 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown