SETD1B p.Arg1792=
c.5374C>A · rs183137751 · VCV2643483
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.176%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.57 | acceptor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.6 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 19.89 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.176%
East Asian · 72/40,908 alleles
Filtering AF
0.143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.131%
Overall
0.00685%
106/1,548,292 alleles · rare
exomes 91/1,395,946 · genomes 15/152,346 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.176% | 568 |
| South Asian | 0.0274% | 3,653 |
| Remaining individualsnot grpmax-eligible | 0.00999% | 10,012 |
| Admixed American | 0.00196% | 50,974 |
| European (non-Finnish) | 0.000349% | 286,665 |
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
- SETD1B
- Protein
- p.Arg1792=
- Coding
- c.5374C>A
- MANE Select
- NM_001353345
- dbSNP
- rs183137751
- Type
- single nucleotide variant
- Location
- chr12:121827555 (GRCh38)
- Gene constraint
- LOEUF 0.109 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 46.43 · 4 PDB
- Residue 1792
- the 'disordered' region; a UniProt-annotated variant site (in iddseld)
Similar variants
- SETD1B p.Arg1792Gln Pathogenic/Likely pathogenic ★★ ⚠ same residue
- SETD1B p.Arg1792Leu Pathogenic ★ ⚠ same residue
- SETD1B p.Arg1792Trp Uncertain significance ★ ⚠ same residue
- SETD1B p.Arg1329Ter Pathogenic ★★ same type
- SETD1B p.Arg1703Ter Pathogenic/Likely pathogenic ★★ same type
- SETD1B p.Arg1748Cys Pathogenic/Likely pathogenic ★★ same type
- SETD1B p.Arg1825Trp Likely pathogenic ★★ same type
- SETD1B p.Arg1902Cys Pathogenic/Likely 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/setd1b-p-arg1792 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown