ERCC6L2
Chr 9ARERCC excision repair 6 like 2
Also known as: BMFS2, C9orf102, HEBO, RAD26L, SR278
The ERCC6L2 protein is a Snf2 family helicase that promotes double-strand break repair by controlling DNA end-joining and restricting DNA end resection, while also facilitating replication of complex DNA regions and maintaining chromatin structure. Mutations cause bone marrow failure syndrome 2, inherited in an autosomal recessive pattern. This gene is not highly constrained against loss-of-function variants (pLI near zero), suggesting the pathogenic variants may involve other mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
500 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 | 9 | 0 | 0 | 0 | 9 |
Likely Pathogenic | 2 | 0 | 0 | 0 | 2 |
VUS | 2 | 335 | 1 | 0 | 338 |
Likely Benign | 0 | 3 | 17 | 122 | 142 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 13 | 338 | 18 | 122 | 491 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ERCC6L2 · 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
External Resources
Links to major genomics databases and tools