FNDC8

protein-coding

fibronectin type III domain containing 8, the group of Fibronectin type III domain containing

Gene summary

Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_017559.4

Inheritance

—

ClinVar variants

U:59B:5

Top phenotype

Breast-ovarian cancer, familial, susceptibility to, 4

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr17:35,121,615-35,130,732

External References & Databases

Ensembl (ENSG00000073598)

Transcript & Mutation Effects

hg38 • Region Span ~9.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FNDC8 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 60

not providedTotal: 1

Breast-ovarian cancer, familial, susceptibility to, 4Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017559.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			58 clinvar	4 clinvar		62
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	5	0	64

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017559.4	RefSeq	NP_060029.1	4	MANE Select
ENST00000158009.6	Ensembl	ENSP00000158009.4	4	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000158009
Coding exons: 4
Length: 9154
Individuals with no LoFs: 125658
Homozygous LoFs: 0
Heterozygous LoFs: 90
Defined: 125748
p: 0.000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.425	168	184	0.912	0.0000104	2116
Missense (PolyPhen)		54	56.1	0.96256		641
Synonymous	0.0817	79	79.9	0.988	0.00000471	648
Loss of Function	0.915	7	10.1	0.690	4.28e-7	136

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.000062	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00033	0.00032	rare
European (Non-Finnish)	0.00053	0.00052	rare
South Asian	0.00056	0.00056	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.796
RVIS EVS: -0.22
RVIS percentile EVS: 37.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0980

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium