SMC5
Chr 9structural maintenance of chromosomes 5
Also known as: ATELS2, SMC5L1
SMC5 encodes a core component of the SMC5-SMC6 complex that repairs DNA double-strand breaks through homologous recombination, maintains telomeres, and ensures proper sister chromatid cohesion during cell division. Mutations cause Atelis syndrome 2, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, indicating its critical cellular function.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
202 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 2 | 32 | 0 | 35 |
Likely Pathogenic | 1 | 0 | 8 | 0 | 9 |
VUS | 0 | 119 | 5 | 0 | 124 |
Likely Benign | 0 | 5 | 0 | 1 | 6 |
Benign | 0 | 1 | 1 | 3 | 5 |
| Total | 2 | 127 | 46 | 4 | 179 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SMC5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools