Is RP2 p.Phe92fs (c.276_277delinsA) pathogenic?

RP2 p.Phe92fs (c.276277delinsA) is classified Likely pathogenic in RP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-24). No gnomAD frequency available for this variant; Associated with retinitis pigmentosa.

What condition is associated with RP2 p.Phe92fs (c.276_277delinsA)?

RP2 p.Phe92fs (c.276_277delinsA) is associated with retinitis pigmentosa (ClinVar).

How common is RP2 p.Phe92fs (c.276_277delinsA) in the general population?

RP2 p.Phe92fs (c.276_277delinsA) is no gnomAD frequency available for this variant (gnomAD).

How is Retinitis pigmentosa inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

RP2 p.Phe92fs

c.276_277delinsA · rs2519914078 · VCV2577492

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

Conditions

retinitis pigmentosa

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 haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 2 of 5
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.23	GERP -0.65, phastCons 0.99

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: RP2
Protein: p.Phe92fs
Coding: c.276_277delinsA
MANE Select: NM_006915
dbSNP: rs2519914078
Type: Indel
Location: chrX:46853649 (GRCh38)
Structure: AlphaFold pLDDT 91.64 · 3 PDB
Residue 92: the c-cap/cofactor c-like domain; a β-strand

Full RP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

retinitis pigmentosa — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

RP2 p.Arg118Cys Pathogenic/Likely pathogenic ★★ same condition
RP2 p.Arg120Ter Pathogenic ★★ same condition
RP2 p.Cys122Tyr Pathogenic/Likely pathogenic ★★ same condition
RP2 p.Leu253Arg Likely pathogenic ★★ same condition
RP2 c.*33C>G Uncertain significance ★★ same condition
RP2 p.Arg282Gln Uncertain significance ★★ ⚠ same condition
RP2 p.Ile166Val Uncertain significance ★★ ⚠ same condition
RP2 p.Ser172Gly Uncertain significance ★★ ⚠ same condition

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/rp2-p-phe92fs (accessed [today's date]).

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