DST p.Asp6997fs
c.20987_20988dup · rs2533826804 · VCV2499012
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 87 of 104 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.85 | GERP -3.1, phastCons 0.33 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. 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
- DST
- Protein
- p.Asp6997fs
- Coding
- c.20987_20988dup
- MANE Select
- NM_001374736
- dbSNP
- rs2533826804
- Type
- Duplication
- Location
- chr6:56487162 (GRCh38)
- Gene constraint
- LOEUF 0.297 · pLI 1.00 (gnomAD)
Similar variants
- DST p.Thr1727fs Pathogenic ★★ same type
- DST p.Tyr1196fs Pathogenic/Likely pathogenic ★★ same type
- DST p.Phe1022dup Uncertain significance ★★ same type
- DST p.Ala1361fs Pathogenic ★ same type
- DST p.Arg6274fs Pathogenic ★ same type
- DST p.Asn2130Ter Pathogenic ★ same type
- DST p.Asn5081fs Pathogenic ★ same type
- DST p.Gln1818fs Pathogenic ★ 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/dst-p-asp6997fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown