CHMP4B p.Asp160=
c.480C>T · rs551868035 · VCV262917
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0167%, amr)
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 -5.9 | GERP -3.6 |
| Overall | ||
| CADD | 7.839 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0167%
Admixed American · 10/59,988 alleles
Filtering AF
0.009%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00681%
Overall
0.00107%
17/1,587,314 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0167% | 5,999 |
| African / African-American | 0.00268% | 37,244 |
| East Asian | 0.00224% | 44,724 |
| European (non-Finnish) | 0.000346% | 288,909 |
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
- CHMP4B
- Protein
- p.Asp160=
- Coding
- c.480C>T
- MANE Select
- NM_176812
- dbSNP
- rs551868035
- Type
- single nucleotide variant
- Location
- chr20:33851063 (GRCh38)
- Gene constraint
- LOEUF 0.208 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 79.98 · 4 PDB
Similar variants
- CHMP4B p.Gly154Arg Uncertain significance ★★ ⚠ same type
- CHMP4B c.190+226C>G Benign ★★ same type
- CHMP4B c.191-5C>T Benign/Likely benign ★★ same type
- CHMP4B c.610+159T>C Benign ★★ same type
- CHMP4B c.610+44A>G Benign ★★ same type
- CHMP4B c.610+51C>G Benign ★★ same type
- CHMP4B c.610+52T>C Benign ★★ same type
- CHMP4B c.610+81G>A Likely 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/chmp4b-p-asp160 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown