DUXB p.Ser205=
c.615C>T · VCV3904956
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.439%, mid)
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 0.25 | GERP -2.6 |
| Overall | ||
| CADD | 5.156 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.439%
Middle Eastern · 18/4,096 alleles
Filtering AF
0.284%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.235%
Overall
0.0433%
283/653,312 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.439% | 228 |
| Ashkenazi Jewishnot grpmax-eligible | 0.321% | 311 |
| South Asian | 0.0433% | 2,310 |
| Remaining individualsnot grpmax-eligible | 0.0426% | 2,349 |
| European (non-Finnish) | 0.0411% | 2,435 |
| Admixed American | 0.0199% | 5,031 |
| African / African-American | 0.00544% | 18,395 |
| East Asian | 0.00272% | 36,732 |
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
- DUXB
- Protein
- p.Ser205=
- Coding
- c.615C>T
- MANE Select
- NM_001351307
- Type
- single nucleotide variant
- Location
- chr16:75694352 (GRCh38)
- Structure
- AlphaFold pLDDT 58.91
Similar variants
- DUXB c.287-4T>C Benign ★ same type
- DUXB p.Asp328= Likely benign ★ same type
- DUXB p.Gln278= Likely benign ★ same type
- DUXB p.Val181= 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/duxb-p-ser205 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown