CARD10 p.His36=
c.108T>C · rs7287804 · VCV3055971
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 29.7%, afr) — too common for a highly-penetrant pathogenic allele
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 5.6 | GERP -3.3, phastCons 1 |
| Overall | ||
| CADD | 13.63 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
29.7%
African / African-American · 22,159/74,514 alleles
Filtering AF
29.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 29.3%
Overall
6.15%
97,825/1,590,852 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 29.7% | 3 |
| Amishnot grpmax-eligible | 9.91% | 10 |
| Remaining individualsnot grpmax-eligible | 6.64% | 15 |
| Middle Eastern | 6.58% | 15 |
| East Asian | 5.75% | 17 |
| European (non-Finnish) | 5.12% | 20 |
| Admixed American | 5.09% | 20 |
| Ashkenazi Jewishnot grpmax-eligible | 4.97% | 20 |
| South Asian | 2.81% | 36 |
| Finnishnot grpmax-eligible | 2.74% | 37 |
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.His36=
- Coding
- c.108T>C
- MANE Select
- NM_014550
- dbSNP
- rs7287804
- Type
- single nucleotide variant
- Location
- chr22:37519093 (GRCh38)
- Gene constraint
- LOEUF 0.678 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.22
- Residue 36
- the card domain
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-his36 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown