DST p.Asn6795Ser
c.20384A>G · rs749808366 · VCV1418805
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 8.58e-05%, nfe)
Conditions
3
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.043 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.14 | GERP -1.5, phastCons 0.017 |
| Regional constraint | o/e 0.83 | unconstrained · MANE · 46 kb · p 3.7e-11 · regional, not allelic |
| Overall | ||
| CADD | 15.23 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.58e-05%
European (non-Finnish) · 1/1,166,082 alleles
Overall
6.96e-05%
1/1,437,342 alleles · very rare
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
- DST
- Protein
- p.Asn6795Ser
- Coding
- c.20384A>G
- MANE Select
- NM_001374736
- dbSNP
- rs749808366
- Type
- single nucleotide variant
- Location
- chr6:56494020 (GRCh38)
- Gene constraint
- LOEUF 0.297 · pLI 1.00 (gnomAD)
Similar variants
- DST c.22959+1G>A Likely pathogenic ★★ same condition
- DST p.Arg1512Ter Pathogenic/Likely pathogenic ★★ same condition
- DST p.Arg1696Ter Pathogenic/Likely pathogenic ★★ same condition
- DST p.Arg22Ter Likely pathogenic ★★ same condition
- DST p.Arg7329Ter Pathogenic ★★ same condition
- DST p.Cys1828Ter Pathogenic/Likely pathogenic ★★ same condition
- DST p.Gln1124Ter Pathogenic/Likely pathogenic ★★ same condition
- DST p.Gln1366Ter Pathogenic/Likely pathogenic ★★ 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/dst-p-asn6795ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown