MEN1 p.Lys377fs
c.1130del · VCV4085584
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 8 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP 0.17, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MEN1
- Protein
- p.Lys377fs
- Coding
- c.1130del
- MANE Select
- NM_001370259
- Type
- Deletion
- Location
- chr11:64805690 (GRCh38)
- Gene constraint
- LOEUF 0.206 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 85.13 · 69 PDB
- Residue 377
- the 'interaction with fancd2' region; an α-helix
Similar variants
- MEN1 p.Lys377Arg Uncertain significance ★★ ⚠ same residue
- MEN1 p.Lys377= Likely benign ★ same residue
- MEN1 c.1350+1_1350+11del Pathogenic ★★ same type
- MEN1 c.1351-3_1359del Pathogenic/Likely pathogenic ★★ same type
- MEN1 c.1356_1367del12 Pathogenic ★★ same type
- MEN1 p.Ala176fs Pathogenic ★★ same type
- MEN1 p.Ala25_Arg29del Likely pathogenic ★★ same type
- MEN1 p.Ala535fs Pathogenic/Likely pathogenic ★★ 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/men1-p-lys377fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown