Is MERTK p.Ile117fs (c.349_352del) pathogenic?

MERTK p.Ile117fs (c.349352del) is classified Pathogenic in MERTK (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-28). Absent from gnomAD.

How common is MERTK p.Ile117fs (c.349_352del) in the general population?

MERTK p.Ile117fs (c.349_352del) is absent from gnomAD (gnomAD).

MERTK p.Ile117fs

c.349_352del · rs2466747123 · VCV1929275

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

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 2 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1.6	GERP 2.1

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: MERTK
Protein: p.Ile117fs
Coding: c.349_352del
MANE Select: NM_006343
dbSNP: rs2466747123
Type: Deletion
Location: chr2:111929404 (GRCh38)
Gene constraint: LOEUF 0.787 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 72.78 · 42 PDB
Residue 117: a disulfide bond; the ig-like c2-type 1 domain

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

Similar variants

MERTK p.Arg755fs Pathogenic/Likely pathogenic ★★ same type
MERTK p.Asn575fs Pathogenic ★★ same type
MERTK p.Asp169fs Pathogenic ★★ same type
MERTK p.Cys738fs Pathogenic ★★ same type
MERTK p.Glu792_Ile793insTer Pathogenic ★★ same type
MERTK p.Gly691fs Pathogenic ★★ same type
MERTK p.Gly76fs Pathogenic ★★ same type
MERTK p.Ala904_Ser905del Uncertain significance ★★ 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/mertk-p-ile117fs (accessed [today's date]).

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