RAD1 p.Asp261=
c.783T>C · rs372896762 · VCV762522
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.04%, afr)
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 0.14 | GERP -3.7, phastCons 0.085 |
| Overall | ||
| CADD | 7.84 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.04%
African / African-American · 30/74,994 alleles
Filtering AF
0.0288%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0249%
Overall
0.00254%
41/1,613,162 alleles · ultra-rare
exomes 29/1,460,848 · genomes 12/152,314 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.04% | 2,500 |
| East Asian | 0.0201% | 4,978 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,223 |
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
- RAD1
- Protein
- p.Asp261=
- Coding
- c.783T>C
- MANE Select
- NM_002853
- dbSNP
- rs372896762
- Type
- single nucleotide variant
- Location
- chr5:34908831 (GRCh38)
- Gene constraint
- LOEUF 1.077 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.56 · 7 PDB
- Residue 261
- a β-strand
Similar variants
- RAD1 p.Ala196Thr Uncertain significance ★ ⚠ same type
- RAD1 p.Ala40Thr Uncertain significance ★ ⚠ same type
- RAD1 p.Ala63Thr Uncertain significance ★ ⚠ same type
- RAD1 p.Arg109Gln Uncertain significance ★ ⚠ same type
- RAD1 p.Arg109Pro Uncertain significance ★ ⚠ same type
- RAD1 p.Arg109Ter Uncertain significance ★ same type
- RAD1 p.Arg164Cys Uncertain significance ★ ⚠ same type
- RAD1 p.Arg164His 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/rad1-p-asp261 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown