FANCG

Chr 9AR

FA complementation group G

ENSG00000221829UniProt: O15287OMIM: 602956

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

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.092 OMIM phenotypes
Clinical Summary— FANCG
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Gene-Disease Validity (ClinGen)
Fanconi anemia complementation group G · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
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Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
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?
0.24Z-score
OE missense 0.96 (0.87–1.06)
301 obs / 313.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.57–1.09)
0≤0.351.4
Missense OE?0.96 (0.87–1.06)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 25 / 32.0Missense obs/exp: 301 / 313.2Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients