DSCAML1 p.Arg2012=
c.6036A>G · rs1272931015 · VCV2189204
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0154%, 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 3.1 | GERP 1.2, phastCons 1 |
| Overall | ||
| CADD | 11.92 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0154%
Admixed American · 7/45,352 alleles
Filtering AF
0.00719%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0051%
Overall
0.000588%
9/1,530,570 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0154% | 6,479 |
| European (non-Finnish) | 0.000175% | 570,295 |
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
- DSCAML1
- Protein
- p.Arg2012=
- Coding
- c.6036A>G
- MANE Select
- NM_020693
- dbSNP
- rs1272931015
- Type
- single nucleotide variant
- Location
- chr11:117428454 (GRCh38)
- Gene constraint
- LOEUF 0.253 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.92 · 1 PDB
- Residue 2012
- the 'disordered' region
Similar variants
- DSCAML1 p.Arg2012Gln Uncertain significance ★ ⚠ same residue
- DSCAML1 c.-101C>T Uncertain significance ★★ same type
- DSCAML1 c.-17T>C Uncertain significance ★★ same type
- DSCAML1 c.-23G>A Uncertain significance ★★ same type
- DSCAML1 c.-44C>T Uncertain significance ★★ same type
- DSCAML1 c.-51G>T Uncertain significance ★★ same type
- DSCAML1 c.-57G>A Uncertain significance ★★ same type
- DSCAML1 c.-87G>A 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/dscaml1-p-arg2012 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown