Is RPS10 p.Arg98fs (c.292dup) pathogenic?

RPS10 p.Arg98fs (c.292dup) is classified Likely pathogenic in RPS10 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-06-08). No gnomAD frequency available for this variant.

How common is RPS10 p.Arg98fs (c.292dup) in the general population?

RPS10 p.Arg98fs (c.292dup) is no gnomAD frequency available for this variant (gnomAD).

RPS10 p.Arg98fs

c.292dup · rs1765892950 · VCV1337957

Likely pathogenic Single submitter

Classification

Likely 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 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 1.9, 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: RPS10
Protein: p.Arg98fs
Coding: c.292dup
MANE Select: NM_001014
dbSNP: rs1765892950
Type: Duplication
Location: chr6:34424698 (GRCh38)
Gene constraint: LOEUF 0.265 · pLI 1.00 · ClinGen HI 2/3 (gnomAD)
Structure: AlphaFold pLDDT 75.34 · 195 PDB
Residue 98: the 'disordered' region

Full RPS10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

RPS10 p.Arg98_Pro99insSerArg Uncertain significance ★ same residue
RPS10 p.Arg98His Uncertain significance ★★ ⚠ same residue
RPS10 c.322+2_322+4dup Uncertain significance ★ same type
RPS10 p.Arg96_Ser97insArg Uncertain significance ★ same type
RPS10 p.Pro106_Lys107insGluThrGlyArgProArgPro Uncertain significance ★ same type
RPS10 c.323-213dup Likely benign ★ same type
RPS10 c.400+19dup Likely benign ★ same type
RPS10 c.401-10dup 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/rps10-p-arg98fs (accessed [today's date]).

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