RET p.Phe329Ter
c.986_987delinsAG · VCV4907081
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Rare
Conditions
1
RET-related disorder
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 in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- RET
- Protein
- p.Phe329Ter
- Coding
- c.986_987delinsAG
- MANE Select
- NM_020975
- Type
- Indel
- Location
- chr10:43106494 (GRCh38)
- Gene constraint
- LOEUF 0.24 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.27 · 34 PDB
- Residue 329
- the 'cadherin-like region 3 (cld3)' region
Disease context
RET-related disorder
Similar variants
- RET c.1759+1G>A Pathogenic/Likely pathogenic ★★ same condition
- RET p.Arg180Ter Pathogenic ★★ same condition
- RET p.Arg897Gln Pathogenic ★★ ⚠ same condition
- RET p.Cys609Phe Pathogenic ★★ same condition
- RET p.Cys609Tyr Pathogenic ★★ same condition
- RET p.Cys611Arg Pathogenic/Likely pathogenic ★★ same condition
- RET p.Cys618Ser Pathogenic ★★ same condition
- RET p.Cys634Arg Pathogenic/Likely 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/ret-p-phe329ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown