RNF213 p.Pro151=
c.453A>G · rs7215243 · VCV1244935
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 53.1%, afr) — too common for a highly-penetrant pathogenic allele
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 -0.71 | GERP -2.2 |
| Overall | ||
| CADD | 0.793 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
53.1%
African / African-American · 39,544/74,524 alleles
Filtering AF
52.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 52.4%
Overall
23.7%
376,778/1,589,874 alleles · common
exomes 331,817/1,437,898 · genomes 44,961/151,976 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 53.1% | 2 |
| South Asian | 23.8% | 4 |
| Remaining individualsnot grpmax-eligible | 23.3% | 4 |
| European (non-Finnish) | 23.1% | 4 |
| Amishnot grpmax-eligible | 21.9% | 5 |
| Finnishnot grpmax-eligible | 18.7% | 5 |
| Ashkenazi Jewishnot grpmax-eligible | 17.1% | 6 |
| Middle Eastern | 16.2% | 6 |
| Admixed American | 15.9% | 6 |
| East Asian | 12.3% | 8 |
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
- RNF213
- Protein
- p.Pro151=
- Coding
- c.453A>G
- MANE Select
- NM_001256071
- dbSNP
- rs7215243
- Type
- single nucleotide variant
- Location
- chr17:80288006 (GRCh38)
- Gene constraint
- LOEUF 0.692 · pLI <0.01 (gnomAD)
- Residue 151
- the 'disordered' region
Similar variants
- RNF213 p.Ala5114Thr Uncertain significance ★★ ⚠ same type
- RNF213 p.Arg2727Gly Uncertain significance ★★ ⚠ same type
- RNF213 p.Arg3585His Uncertain significance ★★ ⚠ same type
- RNF213 p.Arg4276Trp Uncertain significance ★★ ⚠ same type
- RNF213 p.Arg4492Gln Uncertain significance ★★ ⚠ same type
- RNF213 p.Arg4810Ser Uncertain significance ★★ ⚠ same type
- RNF213 p.Arg4958Trp Uncertain significance ★★ ⚠ same type
- RNF213 p.Asn1439Ser 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/rnf213-p-pro151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown