RET p.Ser696fs
c.2082del · VCV4907101
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
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 | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 11 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 0.75, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- RET
- Protein
- p.Ser696fs
- Coding
- c.2082del
- MANE Select
- NM_020975
- Type
- Deletion
- Location
- chr10:43114681 (GRCh38)
- Gene constraint
- LOEUF 0.24 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.27 · 34 PDB
- Residue 696
- a modified residue (phosphoserine)
Disease context
RET-related disorder
Similar variants
- RET p.Glu337fs Pathogenic/Likely pathogenic ★★ same condition
- RET p.Tyr952fs Pathogenic/Likely pathogenic ★★ same condition
- RET p.Ser696Leu Uncertain significance ★★ ⚠ same residue
- RET p.Ser696= Benign/Likely benign ★★ same residue
- RET c.1760-2del Likely pathogenic ★ same condition
- RET p.Ala228_Arg231del Likely pathogenic ★ same condition
- RET p.Ala306fs Likely pathogenic ★ same condition
- RET p.Ala35fs 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-ser696fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown