C7 p.Ser232del
c.690TTC[1] · rs777361512 · VCV1933266
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.9 | GERP -3.8 |
| Overall | ||
| CADD | 8.205 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,076 alleles
Filtering AF
0.000616%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000474%
Overall
0.00106%
17/1,609,878 alleles · ultra-rare
exomes 14/1,457,682 · genomes 3/152,196 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,076 |
| African / African-American | 0.00267% | 37,392 |
| Admixed American | 0.00169% | 59,264 |
| European (non-Finnish) | 0.0011% | 90,650 |
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
- C7
- Protein
- p.Ser232del
- Coding
- c.690TTC[1]
- MANE Select
- NM_000587
- dbSNP
- rs777361512
- Type
- Microsatellite
- Location
- chr5:40945318 (GRCh38)
- Structure
- AlphaFold pLDDT 89.67 · 6 PDB
Similar variants
- C7 p.Ser232= Likely benign ★★ same residue
- C7 p.His643fs Pathogenic ★★ same type
- C7 c.2166-1_2166insGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATACTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATTCTTTTCAG Pathogenic ★ same type
- C7 p.Leu286fs Pathogenic ★ same type
- C7 p.Glu615del Uncertain significance ★ same type
- C7 p.Pro135del Uncertain significance ★ same type
- C7 c.*96TCT[1] Benign ★ same type
- C7 p.Val714fs Pathogenic 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/c7-p-ser232del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown