Is MEFV c.(?_911 pathogenic?

MEFV c.(?911 is classified Likely pathogenic in MEFV (ClinVar, Single submitter, 1 submitter; last evaluated 2020-10-04). Associated with familial Mediterranean fever, autosomal dominant.

What condition is associated with MEFV c.(?_911?

MEFV c.(?_911 is associated with familial Mediterranean fever, autosomal dominant (ClinVar).

How is Familial Mediterranean fever inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

MEFV c.(?_911

VCV987917

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

familial Mediterranean fever, autosomal dominant

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: MEFV
Coding: c.(?_911
MANE Select: NM_000243
Type: Deletion
Gene constraint: LOEUF 1.147 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 73.64 · 11 PDB

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

Disease context

familial Mediterranean fever, autosomal dominant — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial Mediterranean fever (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Adolescent, Adult, Childhood, Infancy
Prevalence: >1 / 1000 (Turkey)

Similar variants

MEFV p.Gly137fs Conflicting classifications of pathogenicity ★ same condition
MEFV p.Leu182fs Uncertain significance ★ same condition
MEFV p.Thr771fs Conflicting classifications of pathogenicity ★ same condition
MEFV p.Arg761His Pathogenic/Likely pathogenic ★★ ⚠ same condition
MEFV p.Ser242Arg Pathogenic/Likely pathogenic ★★ same condition
MEFV p.Val726Ala Pathogenic/Likely pathogenic ★★ ⚠ same condition
MEFV p.Ala2Gly Uncertain significance ★★ ⚠ same condition
MEFV p.Ala416Thr Uncertain significance ★★ ⚠ 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/mefv-c-911 (accessed [today's date]).

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