RNF168 p.Ser134=
c.402C>T · rs149037278 · VCV711905
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.103%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP -2.2, phastCons 0.79 |
| Overall | ||
| CADD | 8.308 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.103%
African / African-American · 77/74,898 alleles
Filtering AF
0.0842%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0775%
Overall
0.00694%
112/1,613,810 alleles · rare
exomes 55/1,461,838 · genomes 57/151,972 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.103% | 973 |
| Middle Eastern | 0.0495% | 2,021 |
| East Asian | 0.0178% | 5,610 |
| Admixed American | 0.00834% | 11,994 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,501 |
| Finnishnot grpmax-eligible | 0.00156% | 63,922 |
| European (non-Finnish) | 0.0011% | 90,769 |
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
- RNF168
- Protein
- p.Ser134=
- Coding
- c.402C>T
- MANE Select
- NM_152617
- dbSNP
- rs149037278
- Type
- single nucleotide variant
- Location
- chr3:196487555 (GRCh38)
- Gene constraint
- LOEUF 1.406 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 61.97 · 39 PDB
- Residue 134
- a modified residue (phosphoserine); an α-helix
Similar variants
- RNF168 p.Ser134Thr Uncertain significance ★ ⚠ same residue
- RNF168 p.Arg131Ter Pathogenic/Likely pathogenic ★★ same type
- RNF168 p.Arg165Ter Pathogenic/Likely pathogenic ★★ same type
- RNF168 p.Glu138Ter Pathogenic/Likely pathogenic ★★ same type
- RNF168 p.Ala141Val Uncertain significance ★★ ⚠ same type
- RNF168 p.Ala7Ser Uncertain significance ★★ ⚠ same type
- RNF168 p.Arg131Gln Uncertain significance ★★ ⚠ same type
- RNF168 p.Arg132Trp 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/rnf168-p-ser134 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown