CEMIP p.Cys628=
c.1884T>C · rs2271160 · VCV1246244
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 26.6%, eas) — too common for a highly-penetrant pathogenic allele
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 -2 | GERP -5.8 |
| Overall | ||
| CADD | 4.031 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
26.6%
East Asian · 11,923/44,850 alleles
Filtering AF
26.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 26%
Overall
14.5%
234,369/1,614,022 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 26.6% | 4 |
| South Asian | 18.5% | 5 |
| Ashkenazi Jewishnot grpmax-eligible | 15% | 7 |
| Remaining individualsnot grpmax-eligible | 15% | 7 |
| European (non-Finnish) | 13.9% | 7 |
| Finnishnot grpmax-eligible | 13.7% | 7 |
| African / African-American | 13.6% | 7 |
| Admixed American | 13.4% | 7 |
| Amishnot grpmax-eligible | 13.1% | 8 |
| Middle Eastern | 10% | 10 |
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
- CEMIP
- Protein
- p.Cys628=
- Coding
- c.1884T>C
- MANE Select
- NM_001293298
- dbSNP
- rs2271160
- Type
- single nucleotide variant
- Location
- chr15:80920180 (GRCh38)
- Gene constraint
- LOEUF 0.764 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.69
Similar variants
- CEMIP p.Ala33Val Uncertain significance ★★ ⚠ same type
- CEMIP p.Gly870Asp Uncertain significance ★★ ⚠ same type
- CEMIP c.1086+82T>A Benign ★★ same type
- CEMIP c.1087-239G>A Benign ★★ same type
- CEMIP c.1412-76G>A Benign ★★ same type
- CEMIP c.1587+57A>G Benign ★★ same type
- CEMIP c.1587+79G>A Benign ★★ same type
- CEMIP c.1797+102T>C Benign ★★ 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/cemip-p-cys628 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown