MEN1 p.Ala160fs
c.478dup · VCV4735124
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
multiple endocrine neoplasia type 1
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 3 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MEN1
- Protein
- p.Ala160fs
- Coding
- c.478dup
- MANE Select
- NM_001370259
- Type
- Duplication
- Location
- chr11:64808066 (GRCh38)
- Gene constraint
- LOEUF 0.206 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 85.13 · 69 PDB
- Residue 160
- an α-helix; a UniProt-annotated variant site (in men1; strong decrease in jund-binding); a UniProt-annotated variant site (in men1)
Disease context
multiple endocrine neoplasia type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Multiple endocrine neoplasia type 1 (Orphanet):
- Inheritance
- Autosomal dominant, Not applicable
- Onset
- All ages
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- MEN1 p.Ala160Pro Pathogenic ★★ same residue
- MEN1 p.Ala160= Benign/Likely benign ★★ same residue
- MEN1 p.Ala380fs Pathogenic ★★ same condition
- MEN1 p.Ala467fs Pathogenic ★★ same condition
- MEN1 p.Arg108fs Pathogenic ★★ same condition
- MEN1 p.Asp123fs Pathogenic ★★ same condition
- MEN1 p.Asp136fs Pathogenic ★★ same condition
- MEN1 p.Asp406fs 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/men1-p-ala160fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown