Fanconi anemia complementation group G

disease

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Also known as FANCGFanconi anaemia complementation group type GFanconi anemia complementation group type GFanconi anemia, complementation group GFanconi Anemia, complementation group type G

Summary

Fanconi anemia complementation group G (MONDO:0013565) is a disease caused by FANCG (GenCC Definitive), with 1 cohort gene.

At a glance

Causal gene: FANCG (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 394

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Fanconi anemia complementation group G
Mondo ID	MONDO:0013565
OMIM	614082
DOID	DOID:0111086
NCIT	C125708
UMLS	C3469527
MedGen	854017
GARD	0015753
Is cancer (heuristic)	no

Also known as: FANCG · Fanconi anaemia complementation group type G · Fanconi anemia complementation group G · Fanconi anemia complementation group type G · Fanconi anemia, complementation group G · Fanconi Anemia, complementation group type G

Data availability: 394 ClinVar variants · 4 GenCC gene-disease records · 29 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › congenital anemia › Fanconi anemia › Fanconi anemia complementation group G

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

394 retrieved; paginated sample, class counts are floors:

174 uncertain significance, 66 likely pathogenic, 40 pathogenic/likely pathogenic, 40 pathogenic, 30 conflicting classifications of pathogenicity, 30 likely benign, 8 benign/likely benign, 6 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1071538	NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072435	NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter)	FANCG	Pathogenic	criteria provided, multiple submitters, no conflicts
1072557	NM_004629.2(FANCG):c.1144-1G>T	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073453	NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)	FANCG	Pathogenic	criteria provided, multiple submitters, no conflicts
1322888	NM_004629.2(FANCG):c.910G>T (p.Glu304Ter)	FANCG	Pathogenic	criteria provided, single submitter
1368148	NM_004629.2(FANCG):c.336del (p.Arg113fs)	FANCG	Pathogenic	criteria provided, multiple submitters, no conflicts
1403140	NM_004629.2(FANCG):c.981dup (p.Leu328fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1433629	NM_004629.2(FANCG):c.552dup (p.Ser185fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1452290	NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1454507	NM_004629.2(FANCG):c.1483del	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1457890	NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1458594	NM_004629.2(FANCG):c.713dup (p.Leu239fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1679122	NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1915448	NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2033891	NM_004629.2(FANCG):c.941del (p.Cys314fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2080001	NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)	FANCG	Pathogenic	criteria provided, multiple submitters, no conflicts
216091	NM_004629.2(FANCG):c.156dup (p.Leu53fs)	FANCG	Pathogenic	criteria provided, multiple submitters, no conflicts
2192133	NM_004629.2(FANCG):c.1653del (p.His553fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2421999	NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2446386	NM_004629.2(FANCG):c.619del (p.Leu207fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2632659	NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675567	NM_004629.2(FANCG):c.930dup (p.Asn311fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675574	NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)	FANCG	Pathogenic	criteria provided, multiple submitters, no conflicts
2675576	NM_004629.2(FANCG):c.1144-1G>A	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675588	NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675589	NM_004629.2(FANCG):c.694_695del (p.Leu232fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2721404	NM_004629.2(FANCG):c.1473del (p.Glu492fs)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2738859	NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2760581	NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2812163	NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)	FANCG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
FANCG	Definitive	Autosomal recessive	Fanconi anemia complementation group G	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FANCG	Orphanet:84	Fanconi anemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FANCG	HGNC:3588	ENSG00000221829	O15287	Fanconi anemia group G protein	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FANCG	Fanconi anemia group G protein	DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FANCG	Other/Unknown	no		TPR-like_helical_dom_sf, TPR_rpt, FANCG

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ganglionic eminence	1
right hemisphere of cerebellum	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FANCG	242	ubiquitous	marker	ventricular zone, ganglionic eminence, right hemisphere of cerebellum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FANCG	1,737

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FANCG	O15287	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Fanconi Anemia Pathway	1	278.5×	0.007	FANCG
PKR-mediated signaling	1	141.0×	0.007	FANCG

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to radiation	1	1203.7×	0.006	FANCG
interstrand cross-link repair	1	432.1×	0.006	FANCG
ovarian follicle development	1	391.9×	0.006	FANCG
mitochondrion organization	1	151.8×	0.010	FANCG
spermatid development	1	145.3×	0.010	FANCG
DNA repair	1	63.8×	0.018	FANCG
DNA damage response	1	53.5×	0.019	FANCG

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FANCG	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	FANCG

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
FANCG	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: FANCG