PRRC2A p.Pro1592fs
c.4775del · VCV4974099
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 19 of 31 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.6 | GERP -3.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PRRC2A
- Protein
- p.Pro1592fs
- Coding
- c.4775del
- MANE Select
- NM_004638
- Type
- Deletion
- Location
- chr6:31634289 (GRCh38)
- Gene constraint
- LOEUF 0.322 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 40.07
- Residue 1592
- the '4 x 57 aa type a repeats' region; the 'disordered' region
Similar variants
- PRRC2A p.Pro1592= Likely benign same residue
- PRRC2A p.Pro1592Leu Likely benign same residue
- PRRC2A c.983-2_983-1del Uncertain significance ★ same type
- PRRC2A p.Leu1279fs Uncertain significance ★ same type
- PRRC2A p.508PAAP[1] Benign same type
- PRRC2A p.Gly793del 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/prrc2a-p-pro1592fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown