FANCG

Chr 9AR

FA complementation group G

NCBI Gene: 2189ENSG00000221829UniProt: O15287

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene

Primary Disease Associations & Inheritance

Fanconi anemia, complementation group GMIM #614082
AR
Fanconi anemia, complementation group GMIM #614082
AR
UniProtFanconi anemia complementation group G
1523
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
2
Active trials
Clinical Summary— FANCG
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
1523 total variants — no pathogenic classifications of 1523 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.09LOEUF
pLI 0.000
Z-score 1.15
OE 0.78 (0.57–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.24Z-score
OE missense 0.96 (0.87–1.06)
301 obs / 313.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.78 (0.57–1.09)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.96 (0.87–1.06)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.00
0≤1.21.6
LoF obs/exp: 25 / 32.0Missense obs/exp: 301 / 313.2Syn Z: 0.01

ClinVar Variant Classifications

1523 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

FANCG · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

FANCG-related Fanconi anemia

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersSkin
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

2 OMIM entries

OMIM
FANCG GENE; FANCG
MIM #602956 · *

Fanconi anemia, complementation group G

MIM #614082

Molecular basis of disorder known

Autosomal recessive

Fanconi anemia, complementation group G

MIM #614082

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.·Haematologica
2019Clinical trial
Fanconi anemia.
Soulier J·Hematology Am Soc Hematol Educ Program
2011Review
A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.
Soukupova J et al.·Cancer Med
2024
[Fanconi anemia].
Bessho F·Nihon Rinsho
2000Review
Clinicopathological and molecular genetic insights into EBV-positive inflammatory follicular dendritic cell sarcoma.
Chen S et al.·Hum Pathol
2024
Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.
Gheybi K et al.·Nat Commun
2025
Identification of a Hypomorphic FANCG Variant in Bernese Mountain Dogs.
Meek K et al.·Genes (Basel)
2022
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.
Ramírez MJ et al.·Am J Hematol
2025
A C57BL/6J Fancg-KO Mouse Model Generated by CRISPR/Cas9 Partially Captures the Human Phenotype.
Shah R et al.·Int J Mol Sci
2023Functional
Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.
Reyes P et al.·Int J Mol Sci
2022Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Polycythemia VeraEssential ThrombocythaemiaMyelofibrosis

Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History

NOT YET RECRUITING
NCT06923670Phase NAFondazione Policlinico Universitario Agostino Gemelli IRCCSStarted 2025-05-21
NGS testingNGS analysis for mutations in genes involved in familial predisposition to hematological malignancies
Triple Negative Breast CancerBreast Cancer

Serial Circulating Tumor DNA (ctDNA) Monitoring During Adjuvant Capecitabine in Early Triple-negative Breast Cancer

RECRUITING
NCT04768426Phase PHASE2Stanford UniversityStarted 2021-02-03
Capecitabine

External Resources

Links to major genomics databases and tools