RET p.Phe147del
c.440_442del · rs1837660523 · VCV988524
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.3 | GERP -0.41, phastCons 1 |
Population frequency
dbSNP / gnomAD
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
- RET
- Protein
- p.Phe147del
- Coding
- c.440_442del
- MANE Select
- NM_020975
- dbSNP
- rs1837660523
- Type
- Deletion
- Location
- chr10:43102442 (GRCh38)
- Gene constraint
- LOEUF 0.24 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.27 · 34 PDB
- Residue 147
- a β-strand; the 'cadherin-like region 1 (cld1)' region
Similar variants
- RET p.Phe147Ser Likely pathogenic same residue
- RET c.1760-2_1760-1del Likely pathogenic ★★ same type
- RET p.Glu337fs Pathogenic/Likely pathogenic ★★ same type
- RET p.Tyr952fs Pathogenic/Likely pathogenic ★★ same type
- RET c.1264-3del Uncertain significance ★★ same type
- RET c.867+4del Uncertain significance ★★ same type
- RET p.Glu818_Gly825del Uncertain significance ★★ same type
- RET p.Ser1021del Uncertain significance ★★ 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/ret-p-phe147del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown