COMP p.Tyr694fs
c.2078dup · rs1234440383 · VCV2006628
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 6.702e-06)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 17 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.1 | GERP -0.43, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
0.00067%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- COMP
- Protein
- p.Tyr694fs
- Coding
- c.2078dup
- MANE Select
- NM_000095
- dbSNP
- rs1234440383
- Type
- Duplication
- Location
- chr19:18784199 (GRCh38)
- Gene constraint
- LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60 · 1 PDB
- Residue 694
- the tsp c-terminal domain; the 'mediates cell survival and induction of the iap family of survival proteins' region; a β-strand; a disulfide bond
Similar variants
- COMP p.Tyr694= Likely benign ★ same residue
- COMP p.Val724fs Likely pathogenic ★ same type
- COMP p.Asp475_Gly476insAsnAsp Uncertain significance ★ same type
- COMP p.Cys430fs Uncertain significance ★ same type
- COMP p.Pro113_Cys114insSerGlyAlaArgCysGlyPro Uncertain significance ★ same type
- COMP p.Tyr610fs Uncertain significance ★ same type
- COMP c.1136-142_1136-140dup Benign ★ same type
- COMP c.1136-68dup 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/comp-p-tyr694fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown