DCN p.Leu355=
c.1065C>T · VCV3659938
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.152%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.24 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -2.5 | GERP -5 |
| Overall | ||
| CADD | 1.503 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.152%
African / African-American · 114/74,980 alleles
Filtering AF
0.129%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.121%
Overall
0.00954%
154/1,613,596 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.152% | 658 |
| Admixed American | 0.0167% | 6,000 |
| Middle Eastern | 0.0165% | 6,062 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,812 |
| East Asian | 0.00223% | 44,862 |
| Finnishnot grpmax-eligible | 0.00156% | 64,010 |
| European (non-Finnish) | 0.00153% | 65,534 |
| South Asian | 0.0011% | 91,060 |
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
- DCN
- Protein
- p.Leu355=
- Coding
- c.1065C>T
- MANE Select
- NM_001920
- Type
- single nucleotide variant
- Location
- chr12:91146073 (GRCh38)
- Gene constraint
- LOEUF 0.789 · pLI 0.14 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60
Similar variants
- DCN p.Lys187Arg Uncertain significance ★★ ⚠ same type
- DCN p.Lys320Arg Uncertain significance ★★ ⚠ same type
- DCN c.212-6T>C Benign ★★ same type
- DCN c.*160C>T Benign ★★ same type
- DCN c.*51A>G Benign ★★ same type
- DCN p.Ala11= Benign ★★ same type
- DCN p.Arg235= Benign ★★ same type
- DCN p.Ile177Phe 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/dcn-p-leu355 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown