RNF213 p.Asp161=
c.483C>T · rs142022751 · VCV719111
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.403%, sas)
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 -5.1 | GERP -2.1 |
| Overall | ||
| CADD | 4.084 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.403%
South Asian · 361/89,566 alleles
Filtering AF
0.369%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.355%
Overall
0.0903%
1,445/1,600,208 alleles · rare
exomes 1,328/1,448,188 · genomes 117/152,020 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.403% | 248 |
| Middle Eastern | 0.281% | 356 |
| Ashkenazi Jewishnot grpmax-eligible | 0.202% | 495 |
| Remaining individualsnot grpmax-eligible | 0.111% | 898 |
| European (non-Finnish) | 0.0745% | 1,343 |
| Admixed American | 0.0702% | 1,424 |
| African / African-American | 0.0241% | 4,154 |
| Finnishnot grpmax-eligible | 0.00959% | 10,423 |
| East Asian | 0.00225% | 44,348 |
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.Asp161=
- Coding
- c.483C>T
- MANE Select
- NM_001256071
- dbSNP
- rs142022751
- Type
- single nucleotide variant
- Location
- chr17:80288036 (GRCh38)
- Gene constraint
- LOEUF 0.692 · pLI <0.01 (gnomAD)
- Residue 161
- 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-asp161 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown