Is RUSC2 p.Pro733fs (c.2198del) pathogenic?

RUSC2 p.Pro733fs (c.2198del) is classified Pathogenic in RUSC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-15). No gnomAD frequency available for this variant.

How common is RUSC2 p.Pro733fs (c.2198del) in the general population?

RUSC2 p.Pro733fs (c.2198del) is no gnomAD frequency available for this variant (gnomAD).

RUSC2 p.Pro733fs

c.2198del · rs2490401718 · VCV2007333

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 in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 3 of 12
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.4	GERP 1.8, 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: RUSC2
Protein: p.Pro733fs
Coding: c.2198del
MANE Select: NM_014806
dbSNP: rs2490401718
Type: Deletion
Location: chr9:35555240 (GRCh38)
Gene constraint: LOEUF 0.383 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 45.82 · 1 PDB
Residue 733: the 'disordered' region

Full RUSC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

RUSC2 p.Gly432_Pro435del Likely benign ★★ same type
RUSC2 c.2969_2983+15del Likely pathogenic ★ same type
RUSC2 p.Asp1350fs Pathogenic ★ same type
RUSC2 p.Asp963fs Pathogenic ★ same type
RUSC2 p.Glu1332fs Pathogenic ★ same type
RUSC2 p.Trp1121fs Pathogenic ★ same type
RUSC2 p.Tyr899fs Pathogenic ★ same type
RUSC2 p.1504TP[1] 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/rusc2-p-pro733fs (accessed [today's date]).

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