CEMIP p.Ser707=
c.2121C>T · rs138671244 · VCV3048312
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.434%, afr)
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 -20 | GERP -5.3 |
| Overall | ||
| CADD | 0.082 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.434%
African / African-American · 326/75,078 alleles
Filtering AF
0.395%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.38%
Overall
0.0278%
448/1,614,252 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.434% | 230 |
| Middle Eastern | 0.099% | 1,010 |
| Admixed American | 0.025% | 4,002 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,251 |
| European (non-Finnish) | 0.00763% | 13,112 |
| East Asian | 0.00223% | 44,888 |
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.Ser707=
- Coding
- c.2121C>T
- MANE Select
- NM_001293298
- dbSNP
- rs138671244
- Type
- single nucleotide variant
- Location
- chr15:80922056 (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-ser707 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown