PKD2L2-DT

PKD2L2 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 5:137757764-137889434

Links

ENSG00000250159 ∙ NCBI:101928005 ∙ ∙ HGNC:55557 ∙ ∙ ∙ 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 PKD2L2-DT gene.

• Myofibrillar myopathy 3 (269 variants)
• not provided (148 variants)
• not specified (30 variants)
• Limb-Girdle Muscular Dystrophy, Dominant (24 variants)
• Inborn genetic diseases (22 variants)
• Myofibrillar Myopathy, Dominant (19 variants)
• Heart failure (3 variants)
• MYOT-related condition (3 variants)
• Cardiomyopathy (1 variants)
• Myofibrillar myopathy (1 variants)
• Muscle weakness (1 variants)
• Malignant tumor of prostate (1 variants)
• 8 conditions (1 variants)
• Progressive distal muscle weakness;Progressive proximal muscle weakness (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PKD2L2-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	3	3	199	122	23	350
Total	3	3	199	122	23

Variants in PKD2L2-DT

This is a list of pathogenic ClinVar variants found in the PKD2L2-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
5-137867879-C-G		Myofibrillar myopathy 3	Uncertain significance (Feb 02, 2018)
5-137867914-A-G		Myofibrillar myopathy 3 • Limb-Girdle Muscular Dystrophy, Dominant	Benign/Likely benign (May 29, 2020)
5-137867932-C-A		Limb-Girdle Muscular Dystrophy, Dominant • Myofibrillar Myopathy, Dominant • Myofibrillar myopathy 3	Benign/Likely benign (Jan 13, 2018)
5-137870126-TA-T			Benign (Aug 10, 2019)
5-137870126-T-TA			Likely benign (Jan 28, 2020)
5-137870141-A-G			Benign (Oct 26, 2019)
5-137870267-T-A			Benign (Jul 15, 2018)
5-137870288-GACACAC-G			Benign (Nov 07, 2019)
5-137870288-G-GAC			Benign (Aug 06, 2019)
5-137870288-G-GACAC			Benign (Aug 06, 2019)
5-137870288-G-GACACAC			Benign (Aug 18, 2019)
5-137870288-G-GACACACAC			Benign (Aug 10, 2019)
5-137870288-G-GACACACACAC			Likely benign (Dec 07, 2019)
5-137870487-C-T		Myofibrillar Myopathy, Dominant • Limb-Girdle Muscular Dystrophy, Dominant • Myofibrillar myopathy 3	Uncertain significance (Jun 14, 2016)
5-137870561-AG-A		Limb-Girdle Muscular Dystrophy, Dominant • Myofibrillar Myopathy, Dominant • Myofibrillar myopathy 3	Uncertain significance (Jun 14, 2016)
5-137870652-A-T		Myofibrillar myopathy 3	Uncertain significance (Feb 01, 2018)
5-137870663-C-T		Myofibrillar myopathy 3	Likely benign (Sep 13, 2023)
5-137870664-G-A		Myofibrillar myopathy 3	Uncertain significance (Jun 25, 2023)
5-137870667-C-G		Myofibrillar myopathy 3	Uncertain significance (Nov 12, 2023)
5-137870667-C-T		Myofibrillar myopathy 3	Uncertain significance (Oct 13, 2023)
5-137870668-G-A		Myofibrillar myopathy 3	Conflicting classifications of pathogenicity (Nov 22, 2022)
5-137870683-T-C		Myofibrillar myopathy 3	Uncertain significance (Jul 03, 2023)
5-137870685-C-G			Uncertain significance (Aug 09, 2016)
5-137870699-A-C		Myofibrillar myopathy 3	Likely benign (Jul 06, 2022)
5-137870700-T-A		Myofibrillar myopathy 3	Uncertain significance (Feb 18, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP