DES p.Asp117=
c.351C>T · rs1954372671 · VCV1732242
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,576,276)
Conditions
1
Cardiovascular phenotype
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 0.56 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 12.87 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,576,276). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DES
- Protein
- p.Asp117=
- Coding
- c.351C>T
- MANE Select
- NM_001927
- dbSNP
- rs1954372671
- Type
- single nucleotide variant
- Location
- chr2:219418813 (GRCh38)
- Gene constraint
- LOEUF 0.81 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73
- Residue 117
- the if rod domain; the 'coil 1a' region
Similar variants
- DES p.Asp117His Uncertain significance ★★ ⚠ same residue
- DES p.Arg212Ter Pathogenic/Likely pathogenic ★★ same condition
- DES p.Arg454Trp Pathogenic/Likely pathogenic ★★ same condition
- DES p.Glu401Asp Pathogenic/Likely pathogenic ★★ same condition
- DES c.1245-3T>G Uncertain significance ★★ same condition
- DES c.639+4A>G Uncertain significance ★★ same condition
- DES p.Ala135Gly Uncertain significance ★★ ⚠ same condition
- DES p.Ala137Val Uncertain significance ★★ ⚠ same condition
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/des-p-asp117 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown