DCPS p.His21=
c.63C>T · rs3740915 · VCV1229271
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 16.9%, eas) — too common for a highly-penetrant pathogenic allele
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 0.57 | GERP -5.3, phastCons 0.008 |
| Overall | ||
| CADD | 3.205 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
16.9%
East Asian · 7,571/44,872 alleles
Filtering AF
16.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 16.4%
Overall
4.81%
77,712/1,614,040 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 16.9% | 6 |
| Admixed American | 16.4% | 6 |
| South Asian | 7.01% | 14 |
| Finnishnot grpmax-eligible | 6.78% | 15 |
| Remaining individualsnot grpmax-eligible | 5.06% | 20 |
| Middle Eastern | 4.54% | 22 |
| European (non-Finnish) | 3.76% | 27 |
| Ashkenazi Jewishnot grpmax-eligible | 3.71% | 27 |
| Amishnot grpmax-eligible | 3.07% | 33 |
| African / African-American | 0.814% | 123 |
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
- DCPS
- Protein
- p.His21=
- Coding
- c.63C>T
- MANE Select
- NM_014026
- dbSNP
- rs3740915
- Type
- single nucleotide variant
- Location
- chr11:126304143 (GRCh38)
- Gene constraint
- LOEUF 1 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.18 · 11 PDB
- Residue 21
- the 'disordered' region
Similar variants
- DCPS p.Arg152Ter Likely pathogenic ★★ same type
- DCPS p.Ala184Thr Uncertain significance ★★ ⚠ same type
- DCPS p.Arg145Cys Uncertain significance ★★ ⚠ same type
- DCPS p.Arg242Gly Uncertain significance ★★ ⚠ same type
- DCPS p.Pro235Leu Uncertain significance ★★ ⚠ same type
- DCPS p.Ala186= Benign/Likely benign ★★ same type
- DCPS p.Ala80= Likely benign ★★ same type
- DCPS p.Asp324= 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/dcps-p-his21 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown