Is MEN1 p.Val367fs (c.1100_1131del) pathogenic?

MEN1 p.Val367fs (c.11001131del) is classified Pathogenic in MEN1 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-04-18). Absent from gnomAD; Associated with hereditary neoplastic syndrome.

What condition is associated with MEN1 p.Val367fs (c.1100_1131del)?

MEN1 p.Val367fs (c.1100_1131del) is associated with hereditary neoplastic syndrome (ClinVar).

How common is MEN1 p.Val367fs (c.1100_1131del) in the general population?

MEN1 p.Val367fs (c.1100_1131del) is absent from gnomAD (gnomAD).

MEN1 p.Val367fs

c.1100_1131del · rs1592640213 · VCV822170

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary neoplastic syndrome

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 7.6	GERP 1.3, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: MEN1
Protein: p.Val367fs
Coding: c.1100_1131del
MANE Select: NM_001370259
dbSNP: rs1592640213
Type: Deletion
Location: chr11:64805689 (GRCh38)
Gene constraint: LOEUF 0.206 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 85.13 · 69 PDB
Residue 367: the 'interaction with fancd2' region; an α-helix

Full MEN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MEN1 p.Val367Ile Conflicting classifications of pathogenicity ★ same residue
MEN1 p.Val367= Likely benign ★ same residue
MEN1 c.1350+1_1350+11del Pathogenic ★★ same condition
MEN1 c.1356_1367del12 Pathogenic ★★ same condition
MEN1 p.Ala176fs Pathogenic ★★ same condition
MEN1 p.Ala535fs Pathogenic/Likely pathogenic ★★ same condition
MEN1 p.Ala6fs Pathogenic ★★ same condition
MEN1 p.Arg115fs 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-val367fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown