CARD14 p.Ser675=
c.2025G>A · rs778055809 · VCV1694233
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0263%, sas)
Conditions
3
autoinflammatory syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.035 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -8.4 | GERP -2.9 |
| Overall | ||
| CADD | 0.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0263%
South Asian · 24/91,096 alleles
Filtering AF
0.0181%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0154%
Overall
0.00217%
35/1,613,848 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0263% | 3,796 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,240 |
| East Asian | 0.00223% | 44,892 |
| Admixed American | 0.00167% | 60,010 |
| Finnishnot grpmax-eligible | 0.00157% | 63,854 |
| African / African-American | 0.00134% | 74,886 |
| European (non-Finnish) | 0.000424% | 236,005 |
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
- CARD14
- Protein
- p.Ser675=
- Coding
- c.2025G>A
- MANE Select
- NM_001366385
- dbSNP
- rs778055809
- Type
- single nucleotide variant
- Location
- chr17:80202226 (GRCh38)
- Gene constraint
- LOEUF 1.222 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.89
Similar variants
- CARD14 p.Ser675Leu Uncertain significance ★ ⚠ same residue
- CARD14 c.349+1G>A Pathogenic ★★ same condition
- CARD14 p.Leu156Pro Pathogenic/Likely pathogenic ★★ same condition
- CARD14 p.Met119Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- CARD14 c.1089+5C>G Uncertain significance ★★ same condition
- CARD14 c.1357-1G>A Uncertain significance ★★ same condition
- CARD14 c.2569+2T>A Uncertain significance ★★ same condition
- CARD14 c.963+5C>T Uncertain significance ★★ 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/card14-p-ser675 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown