TEX11 p.Ser337fs
c.1008dup · VCV3061752
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
male infertility
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 14 of 30 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -0.32 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TEX11
- Protein
- p.Ser337fs
- Coding
- c.1008dup
- MANE Select
- NM_031276
- Type
- Duplication
- Location
- chrX:70682821 (GRCh38)
- Structure
- AlphaFold pLDDT 86.45
Similar variants
- TEX11 c.(159+1_160-1 Pathogenic ★ same condition
- TEX11 c.1792+1G>C Pathogenic ★ same condition
- TEX11 c.37+10228del Pathogenic ★ same condition
- TEX11 c.(652-1_737+1 Pathogenic ★ same condition
- TEX11 c.747+1G>A Pathogenic ★ same condition
- TEX11 c.(-157_-99+1 Pathogenic ★ same condition
- TEX11 p.Trp229Ter Pathogenic ★ same condition
- TEX11 p.Trp400Ter 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/tex11-p-ser337fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown