NACA p.Ala242=
c.726T>C · rs200104799 · VCV731364
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.82%, eas)
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 1.1 | GERP 0.13, phastCons 0.99 |
| Overall | ||
| CADD | 3.649 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.82%
East Asian · 368/44,884 alleles
Filtering AF
0.751%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.724%
Overall
0.0261%
421/1,613,964 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.82% | 122 |
| South Asian | 0.0373% | 2,679 |
| Remaining individualsnot grpmax-eligible | 0.0272% | 3,675 |
| European (non-Finnish) | 0.00017% | 589,946 |
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
- NACA
- Protein
- p.Ala242=
- Coding
- c.726T>C
- MANE Select
- NM_001365896
- dbSNP
- rs200104799
- Type
- single nucleotide variant
- Location
- chr12:56720804 (GRCh38)
- Gene constraint
- LOEUF 0.627 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 38.15 · 26 PDB
Similar variants
- NACA p.Phe405Ser Benign ★★ same type
- NACA p.Pro1772Ser Benign ★★ same type
- NACA p.Pro490Arg Benign ★★ same type
- NACA p.Ala152Val Uncertain significance ★ ⚠ same type
- NACA p.Ala1803Pro Uncertain significance ★ ⚠ same type
- NACA p.Ala1833Val Uncertain significance ★ ⚠ same type
- NACA p.Ala1868Val Uncertain significance ★ ⚠ same type
- NACA p.Ala348Ser 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/naca-p-ala242 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown