FLNC gene: filamin C

Curated reports relevant to this gene

Dilated Cardiomyopathy
- Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
  Actionability
  Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.
Distal Myopathies
- Distal myopathy
  A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.
  - 1 GenCC submitter rates it definitive or strong
Myofibrillar Myopathies
- Myofibrillar myopathy
  A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  Actionability
  Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.

Broader groupings

Hypertrophic Cardiomyopathy
- Autosomal dominant
  One of 62 genes linked to it
  A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
  - 1 GenCC submitter rates it definitive or strong
  - On the ACMG secondary findings list
  Actionability
  Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

How FLNC is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard
Variants with a page

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 9.2 kb of the gene's 28.9 kb; 8,178 of those bases code for the protein.

Sequencing FLNC

10Moderate

How hard FLNC is to sequence with short reads, out of 100

Mappability3.6%
Homology13%
Repeats3.3%
GC content45%
Reference coverage0%

484

positions in FLNC where ClinVar classes a change as pathogenic or likely pathogenic

48 of them (9.9%) fall in regions short reads find hard.

Low mappability (10 sites)
Segmental duplications (48 sites)

A whole genome covers all 28.9 kb of FLNC, introns included, not only the 9.2 kb of exons.

Variants with a page (31)

The FLNC variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
A193T	c.577G>A	Exon 2	128,835,550	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A1186V	c.3557C>T	Exon 21	128,845,022	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.970-4A>G		Intron 5	128,837,983	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2550+2T>C		Intron 16	128,842,956	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.3193-2A>G		Intron 20	128,844,656	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.3791-1G>C		Intron 21	128,845,989	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.5199+1G>T		Intron 30	128,849,579	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.6727+1G>A		Intron 40	128,854,217	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
D1061Ifs*17	c.3180del	Exon 20	128,844,253	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
F298Wfs*48	c.893_908del	Exon 5	128,837,677	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 31 FLNC variants →

Traits linked to FLNC

The Human Phenotype Ontology lists these as features of the rare conditions FLNC can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 19 more traits

Abnormality of the musculoskeletal system

Show 10 more traits

Abnormality of limbs

Show 6 more traits

Abnormality of the nervous system

Show 1 more trait

Waddling gait

Laboratory abnormality

Abnormality of the respiratory system

Constitutional symptom

Abnormality of blood and blood-forming tissues

Abnormality of head or neck

Abnormality of the digestive system

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). FLNC gene: filamin C. Retrieved 17 October 2026, from https://dantelabs.com/genes/flnc

Vancouver

Dante Labs. FLNC gene: filamin C [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/flnc