RAD50 p.Arg193=
c.579G>A · rs1554097802 · VCV457479
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00267%, afr)
Conditions
1
hereditary neoplastic syndrome
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 0.15 | GERP 0.45, phastCons 0.86 |
| Overall | ||
| CADD | 9.76 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00267%
African / African-American · 2/74,922 alleles
Filtering AF
0.000443%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000166%
Overall
0.000124%
2/1,612,648 alleles · very rare
exomes 2/1,460,488 · genomes 0/152,160 · 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
- RAD50
- Protein
- p.Arg193=
- Coding
- c.579G>A
- MANE Select
- NM_005732
- dbSNP
- rs1554097802
- Type
- single nucleotide variant
- Location
- chr5:132579889 (GRCh38)
- Gene constraint
- LOEUF 0.889 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.83 · 6 PDB
- Residue 193
- a UniProt-annotated variant site (in)
Similar variants
- RAD50 p.Arg193Gln Uncertain significance ★★ ⚠ same residue
- RAD50 p.Arg193Trp Uncertain significance ★★ ⚠ same residue
- RAD50 p.Arg193fs Pathogenic ★ same residue
- RAD50 c.1051+1G>A Likely pathogenic ★★ same condition
- RAD50 c.1052-1G>A Likely pathogenic ★★ same condition
- RAD50 c.1052-1G>T Pathogenic/Likely pathogenic ★★ same condition
- RAD50 c.1052-2A>C Likely pathogenic ★★ same condition
- RAD50 c.1245+1G>A Pathogenic/Likely pathogenic ★★ same condition
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/rad50-p-arg193 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown