FANCG
Chr 9ARFA complementation group G
Also known as: FAG, XRCC9
The FANCG protein functions in DNA repair, specifically in interstrand DNA cross-link repair and maintenance of chromosome stability as part of the Fanconi anemia nuclear protein complex. Mutations cause Fanconi anemia complementation group G, a disorder characterized by bone marrow failure, congenital anomalies, cytogenetic instability, and increased cancer predisposition. This gene follows autosomal recessive inheritance and is highly intolerant to loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
400 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 | 4 | 0 | 3 | 0 | 7 |
Likely Pathogenic | 13 | 0 | 1 | 0 | 14 |
VUS | 3 | 249 | 10 | 7 | 269 |
Likely Benign | 0 | 9 | 15 | 73 | 97 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 20 | 258 | 29 | 80 | 388 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FANCG · 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
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGSerial Circulating Tumor DNA (ctDNA) Monitoring During Adjuvant Capecitabine in Early Triple-negative Breast Cancer
RECRUITINGExternal Resources
Links to major genomics databases and tools