CAND2 p.Asn704=
c.2112C>T · rs201904182 · VCV2653548
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.115%, mid)
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 | GERP -5 |
| Overall | ||
| CADD | 0.395 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.115%
Middle Eastern · 7/6,062 alleles
Filtering AF
0.0542%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0384%
Overall
0.0275%
443/1,612,988 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.115% | 866 |
| Remaining individualsnot grpmax-eligible | 0.0496% | 2,016 |
| European (non-Finnish) | 0.0294% | 3,400 |
| Admixed American | 0.0283% | 3,530 |
| South Asian | 0.0274% | 3,643 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0169% | 5,918 |
| African / African-American | 0.00933% | 10,723 |
| East Asian | 0.00446% | 22,435 |
| Finnishnot grpmax-eligible | 0.00318% | 31,474 |
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
- CAND2
- Protein
- p.Asn704=
- Coding
- c.2112C>T
- MANE Select
- NM_001162499
- dbSNP
- rs201904182
- Type
- single nucleotide variant
- Location
- chr3:12817044 (GRCh38)
- Gene constraint
- LOEUF 0.815 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.14 · 2 PDB
Similar variants
- CAND2 p.Arg768Cys Uncertain significance ★★ ⚠ same type
- CAND2 p.Arg1028Cys Benign ★★ same type
- CAND2 p.Arg987Gln Benign ★★ ⚠ same type
- CAND2 p.His709Arg Benign ★★ same type
- CAND2 p.Ser491= Benign ★★ same type
- CAND2 p.Ser999= Likely benign ★★ same type
- CAND2 p.Ala1187Val Uncertain significance ★ ⚠ same type
- CAND2 p.Ala1215Thr 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/cand2-p-asn704 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown