GJD2-DT

GJD2 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 15:34755062-34813505

Links

ENSG00000250007 ∙ NCBI:101928174 ∙ ∙ HGNC:55560 ∙ ∙ ∙ 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 GJD2-DT gene.

• not provided (172 variants)
• Cardiomyopathy (134 variants)
• Cardiovascular phenotype (106 variants)
• not specified (98 variants)
• Dilated cardiomyopathy 1R (92 variants)
• Hypertrophic cardiomyopathy 11 (91 variants)
• Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5 (81 variants)
• Atrial septal defect 5;Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R (72 variants)
• Dilated cardiomyopathy 1R;Atrial septal defect 5;Hypertrophic cardiomyopathy 11 (66 variants)
• Hypertrophic cardiomyopathy (51 variants)
• Dilated Cardiomyopathy, Dominant (42 variants)
• Left ventricular noncompaction cardiomyopathy (42 variants)
• Atrial septal defect (41 variants)
• Familial restrictive cardiomyopathy (41 variants)
• Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11 (41 variants)
• Hypertrophic cardiomyopathy 11;Atrial septal defect 5;Dilated cardiomyopathy 1R (38 variants)
• Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11;Atrial septal defect 5 (32 variants)
• Primary familial hypertrophic cardiomyopathy (8 variants)
• ACTC1-related condition (7 variants)
• Atrial septal defect 5 (6 variants)
• Primary dilated cardiomyopathy (5 variants)
• Inborn genetic diseases (3 variants)
• Wolff-Parkinson-White pattern (2 variants)
• Dilated cardiomyopathy 1A (2 variants)
• Left ventricular noncompaction 4 (1 variants)
• See cases (1 variants)
• Dilated left ventricle (1 variants)
• Primary dilated cardiomyopathy;Left ventricular noncompaction (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJD2-DT 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)						0
splice region						0
non coding	6	12	338	253	38	647
Total	6	12	338	253	38

Highest pathogenic variant AF is 0.00000658

Variants in GJD2-DT

This is a list of pathogenic ClinVar variants found in the GJD2-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
15-34788120-G-A		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Uncertain significance (Jan 13, 2018)
15-34788137-G-A		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Uncertain significance (Jan 12, 2018)
15-34788151-T-C		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Uncertain significance (Jan 12, 2018)
15-34788206-G-C		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Uncertain significance (Jan 12, 2018)
15-34788224-A-G		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Uncertain significance (Jan 13, 2018)
15-34788233-A-G		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Uncertain significance (Jan 13, 2018)
15-34788244-C-A		Familial restrictive cardiomyopathy • Hypertrophic cardiomyopathy • Atrial septal defect • Left ventricular noncompaction cardiomyopathy • Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
15-34788322-T-C		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Benign (Jan 13, 2018)
15-34788359-C-A		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Likely benign (Jan 12, 2018)
15-34788425-C-T		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Uncertain significance (Jan 13, 2018)
15-34788493-C-T		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Uncertain significance (Jan 13, 2018)
15-34788519-G-A		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Uncertain significance (Jan 12, 2018)
15-34788602-G-A		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Uncertain significance (Jan 13, 2018)
15-34788610-G-A		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Uncertain significance (Jan 13, 2018)
15-34788612-G-A		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Uncertain significance (Jan 12, 2018)
15-34788615-G-T		Hypertrophic cardiomyopathy • Left ventricular noncompaction cardiomyopathy • Atrial septal defect • Familial restrictive cardiomyopathy • Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
15-34788631-G-A		Hypertrophic cardiomyopathy • Familial restrictive cardiomyopathy • Atrial septal defect • Dilated Cardiomyopathy, Dominant • Left ventricular noncompaction cardiomyopathy • ACTC1-related disorder	Uncertain significance (Jun 14, 2016)
15-34788638-C-T		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11 • ACTC1-related disorder	Uncertain significance (Jan 13, 2018)
15-34788659-C-A		Familial restrictive cardiomyopathy • Atrial septal defect • Hypertrophic cardiomyopathy • Left ventricular noncompaction cardiomyopathy • Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
15-34788663-G-A		Hypertrophic cardiomyopathy 11 • Dilated cardiomyopathy 1R	Uncertain significance (Jan 12, 2018)
15-34788680-C-G		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Conflicting classifications of pathogenicity (Jul 01, 2023)
15-34788730-T-C		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Benign (Jun 14, 2019)
15-34788738-G-A		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Benign/Likely benign (Jun 15, 2019)
15-34788788-C-A		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Uncertain significance (Jan 13, 2018)
15-34788899-A-G		Dilated cardiomyopathy 1R • Hypertrophic cardiomyopathy 11	Likely benign (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP