Is ROR2 p.Ile191fs (c.566_569dup) pathogenic?

ROR2 p.Ile191fs (c.566569dup) is classified Pathogenic in ROR2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-23). No gnomAD frequency available for this variant.

How common is ROR2 p.Ile191fs (c.566_569dup) in the general population?

ROR2 p.Ile191fs (c.566_569dup) is no gnomAD frequency available for this variant (gnomAD).

ROR2 p.Ile191fs

c.566_569dup · rs1554754007 · VCV504160

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 5 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	GERP -1.4, 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: ROR2
Protein: p.Ile191fs
Coding: c.566_569dup
MANE Select: NM_004560
dbSNP: rs1554754007
Type: Duplication
Location: chr9:91737443 (GRCh38)
Gene constraint: LOEUF 0.543 · pLI 0.35 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 69.09 · 6 PDB
Residue 191: a β-strand; the fz domain

Full ROR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ROR2 p.His362fs Likely pathogenic ★ same type
ROR2 p.Leu456fs Pathogenic ★ same type
ROR2 p.Leu47fs Pathogenic ★ same type
ROR2 p.Met402fs Pathogenic ★ same type
ROR2 p.Pro718delinsAlaAlaLeuProArgTer Pathogenic ★ same type
ROR2 p.Gln547_Gly559dup Uncertain significance ★ same type
ROR2 c.1386+85dup Likely benign ★ same type
ROR2 c.1387-109dup Likely benign ★ 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/ror2-p-ile191fs (accessed [today's date]).

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