PRKDC p.Leu796=
c.2388G>A · rs2551878120 · VCV1790516
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.12 | GERP -2.2, phastCons 0.12 |
| Overall | ||
| CADD | 2.225 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,794 alleles
Overall
6.2e-05%
1/1,613,818 alleles · very rare
exomes 1/1,461,542 · genomes 0/152,276 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- PRKDC
- Protein
- p.Leu796=
- Coding
- c.2388G>A
- MANE Select
- NM_006904
- dbSNP
- rs2551878120
- Type
- single nucleotide variant
- Location
- chr8:47927225 (GRCh38)
- Gene constraint
- LOEUF 0.183 · pLI 1.00 (gnomAD)
Similar variants
- PRKDC p.Leu796Val Uncertain significance ★★ same residue
- PRKDC c.2259+6C>T Uncertain significance ★★ same type
- PRKDC c.3464+4G>A Uncertain significance ★★ same type
- PRKDC c.5235+6T>C Uncertain significance ★★ same type
- PRKDC c.5919+5G>A Uncertain significance ★★ same type
- PRKDC p.Ala1008Val Uncertain significance ★★ ⚠ same type
- PRKDC p.Ala1103Val Uncertain significance ★★ ⚠ same type
- PRKDC p.Ala1130Ser 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/prkdc-p-leu796 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown