DSCAM p.Arg1796=
c.5388A>C · rs181977833 · VCV742975
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.866%, sas)
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 -0.73 | GERP -3.6, phastCons 0.029 |
| Overall | ||
| CADD | 5.215 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.866%
South Asian · 341/39,362 alleles
Filtering AF
0.791%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.761%
Overall
0.0779%
990/1,271,104 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.866% | 115 |
| Middle Eastern | 0.607% | 165 |
| Admixed American | 0.133% | 752 |
| Remaining individualsnot grpmax-eligible | 0.125% | 800 |
| European (non-Finnish) | 0.049% | 2,039 |
| African / African-American | 0.042% | 2,380 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00911% | 10,980 |
| Finnishnot grpmax-eligible | 0.00443% | 22,553 |
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
- DSCAM
- Protein
- p.Arg1796=
- Coding
- c.5388A>C
- MANE Select
- NM_001389
- dbSNP
- rs181977833
- Type
- single nucleotide variant
- Location
- chr21:40042669 (GRCh38)
- Gene constraint
- LOEUF 0.28 · pLI 1.00 · ClinGen HI 2/3 (gnomAD)
- Structure
- AlphaFold pLDDT 69.98 · 1 PDB
- Residue 1796
- the 'required for netrin-mediated axon repulsion of neuronal growth cones' region; the 'disordered' region
Similar variants
- DSCAM p.Ser682Arg Uncertain significance ★★ ⚠ same type
- DSCAM c.5383+9T>A Benign ★★ same type
- DSCAM p.Ala153= Benign ★★ same type
- DSCAM p.Arg1798= Benign/Likely benign ★★ same type
- DSCAM p.Asn1250= Benign ★★ same type
- DSCAM p.Asn576= Benign/Likely benign ★★ same type
- DSCAM p.Asp185= Benign/Likely benign ★★ same type
- DSCAM p.Gln582= 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/dscam-p-arg1796 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown