CHMP7 p.Leu347=
c.1041C>T · rs35799523 · VCV782034
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.73%, 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 -3.7 | GERP -3.7 |
| Overall | ||
| CADD | 2.749 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.73%
African / African-American · 2,796/74,866 alleles
Filtering AF
3.62%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.57%
Overall
0.207%
3,328/1,611,206 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.73% | 27 |
| Admixed American | 0.302% | 331 |
| Remaining individualsnot grpmax-eligible | 0.25% | 400 |
| Middle Eastern | 0.116% | 864 |
| European (non-Finnish) | 0.0157% | 6,366 |
| East Asian | 0.00223% | 44,844 |
| South Asian | 0.0022% | 45,468 |
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
- CHMP7
- Protein
- p.Leu347=
- Coding
- c.1041C>T
- MANE Select
- NM_152272
- dbSNP
- rs35799523
- Type
- single nucleotide variant
- Location
- chr8:23258812 (GRCh38)
- Gene constraint
- LOEUF 0.496 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.53
Similar variants
- CHMP7 p.Ala297= Benign ★★ same type
- CHMP7 p.Ala112Asp Uncertain significance ★ ⚠ same type
- CHMP7 p.Ala12Gly Uncertain significance ★ ⚠ same type
- CHMP7 p.Ala146Thr Uncertain significance ★ ⚠ same type
- CHMP7 p.Ala160Gly Uncertain significance ★ ⚠ same type
- CHMP7 p.Ala17Thr Uncertain significance ★ ⚠ same type
- CHMP7 p.Ala188Val Uncertain significance ★ ⚠ same type
- CHMP7 p.Ala272Thr 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/chmp7-p-leu347 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown