REN p.His367=
c.1101C>T · rs372780064 · VCV2137185
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0173%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.24 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -4.2 |
| Overall | ||
| CADD | 0.004 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0173%
European (non-Finnish) · 204/1,180,040 alleles
Filtering AF
0.0153%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0146%
Overall
0.014%
226/1,614,236 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0173% | 5,785 |
| Middle Eastern | 0.0165% | 6,062 |
| South Asian | 0.0121% | 8,280 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,930 |
| East Asian | 0.00446% | 22,441 |
| Admixed American | 0.00167% | 60,036 |
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
- REN
- Protein
- p.His367=
- Coding
- c.1101C>T
- MANE Select
- NM_001363642 · reported on NM_000537
- dbSNP
- rs372780064
- Type
- single nucleotide variant
- Location
- chr1:204155136 (GRCh38)
- Structure
- AlphaFold pLDDT 85.00
Similar variants
- REN c.249+1G>A Pathogenic/Likely pathogenic ★★ same type
- REN p.Arg49Ter Pathogenic/Likely pathogenic ★★ same type
- REN p.Lys139Ter Pathogenic ★★ same type
- REN p.Ala182Thr Uncertain significance ★★ ⚠ same type
- REN p.Arg119Cys Uncertain significance ★★ ⚠ same type
- REN p.Arg119His Uncertain significance ★★ ⚠ same type
- REN p.Arg148His Uncertain significance ★★ ⚠ same type
- REN p.Arg387Gln 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/ren-p-his367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown