ATP2C2 p.Leu52=
c.154C>T · rs377216368 · VCV3044808
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0322%, nfe)
Conditions
1
ATP2C2-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 0.37 | GERP -1.1, phastCons 0.028 |
| Overall | ||
| CADD | 2.632 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0322%
European (non-Finnish) · 380/1,179,720 alleles
Filtering AF
0.0295%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0284%
Overall
0.0252%
407/1,613,282 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0322% | 3,105 |
| Admixed American | 0.025% | 3,994 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,245 |
| African / African-American | 0.00267% | 37,407 |
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
- ATP2C2
- Protein
- p.Leu52=
- Coding
- c.154C>T
- MANE Select
- NM_014861
- dbSNP
- rs377216368
- Type
- single nucleotide variant
- Location
- chr16:84398553 (GRCh38)
- Gene constraint
- LOEUF 1.712 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 81.13
Disease context
ATP2C2-related disorder
Similar variants
- ATP2C2 c.2580+1G>A Uncertain significance same condition
- ATP2C2 p.Ala223Asp Uncertain significance ⚠ same condition
- ATP2C2 c.1210-10C>T Likely benign same condition
- ATP2C2 c.1504-3A>G Likely benign same condition
- ATP2C2 c.1980+6C>T Likely benign same condition
- ATP2C2 c.2217-5C>T Likely benign same condition
- ATP2C2 c.2333+112T>A Likely benign same condition
- ATP2C2 c.2333+148A>G 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/atp2c2-p-leu52 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown