RAD50 p.Ser1244=
c.3732T>C · rs2149865829 · VCV1606483
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.148 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.055 | GERP 2.5, phastCons 0.88 |
| Overall | ||
| CADD | 9.795 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- RAD50
- Protein
- p.Ser1244=
- Coding
- c.3732T>C
- MANE Select
- NM_005732
- dbSNP
- rs2149865829
- Type
- single nucleotide variant
- Location
- chr5:132640785 (GRCh38)
- Gene constraint
- LOEUF 0.889 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.83 · 6 PDB
- Residue 1244
- a UniProt-annotated variant site (in nbsld)
Similar variants
- RAD50 p.Ser1244Cys Uncertain significance ★ ⚠ 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
- RAD50 c.129+1G>A Likely pathogenic ★★ same condition
- RAD50 c.129+1G>T 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-ser1244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown