FLNC-AS1

FLNC antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:128850162-128862626

Links

ENSG00000242902 ∙ ∙ ∙ HGNC:53474 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FLNC-AS1 gene.

• Cardiovascular phenotype (447 variants)
• not provided (361 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5 (207 variants)
• Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement (120 variants)
• Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement (118 variants)
• Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 (104 variants)
• Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant (99 variants)
• Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5 (72 variants)
• not specified (66 variants)
• Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 (51 variants)
• Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26 (45 variants)
• Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 (36 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant (35 variants)
• Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement (32 variants)
• Hypertrophic cardiomyopathy 26 (31 variants)
• Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant (29 variants)
• Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 (28 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant (28 variants)
• Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement (25 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 (25 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 (21 variants)
• Cardiomyopathy (20 variants)
• Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant (19 variants)
• Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement (19 variants)
• Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 (17 variants)
• Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement (15 variants)
• Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement (14 variants)
• Inborn genetic diseases (13 variants)
• Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 (12 variants)
• Myofibrillar myopathy 5 (11 variants)
• FLNC-related condition (11 variants)
• Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant (9 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26 (9 variants)
• Distal myopathy with posterior leg and anterior hand involvement (8 variants)
• Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 (8 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 (7 variants)
• Primary familial dilated cardiomyopathy (7 variants)
• Primary dilated cardiomyopathy (5 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 (5 variants)
• Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 (4 variants)
• Hypertrophic cardiomyopathy (4 variants)
• Restrictive cardiomyopathy (4 variants)
• Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement (4 variants)
• Arrhythmogenic right ventricular dysplasia, familial, 15 (2 variants)
• 7 conditions (1 variants)
• Myofibrillar myopathy (1 variants)
• See cases (1 variants)
• Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 (1 variants)
• Primary familial hypertrophic cardiomyopathy (1 variants)
• Wolff-Parkinson-White pattern (1 variants)
• Cardiomyopathy, familial restrictive, 5 (1 variants)
• Asymmetric septal hypertrophy (1 variants)
• Spastic ataxia;Cerebellar ataxia (1 variants)
• Conduction disorder of the heart (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLNC-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			4	2		6
splice region						0
non coding	87	47	649	583	64	1430
Total	87	47	653	585	64

Highest pathogenic variant AF is 0.00000661

Variants in FLNC-AS1

This is a list of pathogenic ClinVar variants found in the FLNC-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-128850365-TC-T		Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Apr 16, 2023)
7-128850367-C-G		Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Sep 03, 2022)
7-128850368-C-T		not specified • Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26	Benign/Likely benign (Dec 02, 2023)
7-128850370-C-T		Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5	Likely benign (Jan 28, 2024)
7-128850371-T-A		Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5	Likely benign (Mar 19, 2022)
7-128850374-C-T		Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant	Likely benign (Jul 31, 2019)
7-128850375-C-T		Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant	Likely benign (Nov 07, 2017)
7-128850387-ACAGAGGAGC-A		Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26	Uncertain significance (Jan 21, 2023)
7-128850388-C-G		Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26 • Cardiovascular phenotype	Uncertain significance (Oct 10, 2023)
7-128850389-A-C		Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant • Cardiovascular phenotype	Likely benign (Jan 26, 2024)
7-128850389-A-G		Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Apr 12, 2023)
7-128850391-A-G		Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Aug 30, 2023)
7-128850392-G-A		Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Jul 10, 2023)
7-128850392-G-C		Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (May 07, 2022)
7-128850395-G-A		not specified • Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement • Cardiovascular phenotype	Likely benign (Jun 01, 2024)
7-128850396-C-A		Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26	Uncertain significance (Feb 15, 2023)
7-128850396-C-G		Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement • Cardiovascular phenotype	Conflicting classifications of pathogenicity (Jan 20, 2024)
7-128850402-G-A		Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Sep 20, 2022)
7-128850405-C-T		Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26	Uncertain significance (Aug 31, 2021)
7-128850406-C-G		Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant	Uncertain significance (Nov 18, 2020)
7-128850407-T-C		Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Jan 26, 2023)
7-128850408-G-A		Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Dec 14, 2023)
7-128850408-G-T		Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26	Uncertain significance (Sep 11, 2023)
7-128850413-G-A		Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Dec 12, 2022)
7-128850416-A-G		Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26	Likely benign (Sep 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP