DST p.Ala1189fs
c.3565del · rs2152739843 · VCV1322786
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-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.4, phastCons 1 |
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.Ala1189fs
- Coding
- c.3565del
- MANE Select
- NM_001374736 · reported on NM_001723
- dbSNP
- rs2152739843
- Type
- Deletion
- Location
- chr6:56620469 (GRCh38)
- Gene constraint
- LOEUF 0.297 · pLI 1.00 (gnomAD)
Similar variants
- DST p.Ala1128fs Pathogenic ★★ same type
- DST p.Ala7253fs Pathogenic ★★ same type
- DST p.Arg4211_Lys4215del Uncertain significance ★★ same type
- DST p.Ser2388fs Uncertain significance ★★ same type
- DST c.14441-7del Benign/Likely benign ★★ same type
- DST c.21676-15_21676-14del Benign/Likely benign ★★ same type
- DST c.2697+16del Benign/Likely benign ★★ same type
- DST c.4830+20_4830+21del 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/dst-p-ala1189fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown