TELO2 p.Asp708Ter
c.2121dup · rs2505987224 · VCV2015550
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 17 of 21 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.082 | GERP -1.9, phastCons 0.008 |
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
- TELO2
- Protein
- p.Asp708Ter
- Coding
- c.2121dup
- MANE Select
- NM_016111
- dbSNP
- rs2505987224
- Type
- Duplication
- Location
- chr16:1506321 (GRCh38)
- Gene constraint
- LOEUF 1.03 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.74 · 4 PDB
Similar variants
- TELO2 p.Asn641fs Pathogenic ★ same type
- TELO2 p.Gln307fs Likely pathogenic ★ same type
- TELO2 p.Glu154fs Pathogenic ★ same type
- TELO2 p.Leu541delinsProTer Pathogenic ★ same type
- TELO2 p.Leu731fs Pathogenic ★ same type
- TELO2 c.1002+9_1002+29dup Likely benign ★ same type
- TELO2 c.1653+12dup Likely benign ★ same type
- TELO2 c.613+9dup 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/telo2-p-asp708ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown