Is MYRF p.Pro93fs (c.278del) pathogenic?

MYRF p.Pro93fs (c.278del) is classified Pathogenic in MYRF (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-05). No allele count reported in gnomAD v4.1 (AN 1,604,800).

How common is MYRF p.Pro93fs (c.278del) in the general population?

MYRF p.Pro93fs (c.278del) is no allele count reported in gnomAD v4.1 (AN 1,604,800) (gnomAD).

MYRF p.Pro93fs

c.278del · VCV4536237

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,604,800)

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 LoF-intolerant gene
NMD	predicted	premature termination codon in exon 3 of 27
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1.4	GERP -3.3

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,604,800). 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: MYRF
Protein: p.Pro93fs
Coding: c.278del
MANE Select: NM_001127392
Type: Deletion
Location: chr11:61766097 (GRCh38)
Gene constraint: LOEUF 0.215 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 61.76 · 2 PDB
Residue 93: the 'disordered' region

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

Similar variants

MYRF p.Pro93Leu Uncertain significance ★ ⚠ same residue
MYRF p.Pro93Ser Uncertain significance ★ ⚠ same residue
MYRF p.Asp568fs Likely pathogenic ★★ same type
MYRF c.135-119_1062del Pathogenic ★ same type
MYRF c.859_1591-84del Likely pathogenic ★ same type
MYRF p.Ala681fs Pathogenic ★ same type
MYRF p.Gln1031fs Pathogenic ★ same type
MYRF p.Gly117fs 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/myrf-p-pro93fs (accessed [today's date]).

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