PRDM16-DT

PRDM16 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:3059564-3070251

Previous symbols: [ "LINC00982" ]

Links

ENSG00000177133 ∙ NCBI:440556 ∙ ∙ HGNC:48664 ∙ ∙ ∙ 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 PRDM16-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRDM16-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				1	2	3
Total	0	0	0	1	2

Variants in PRDM16-DT

This is a list of pathogenic ClinVar variants found in the PRDM16-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
1-3068848-G-A			Benign (Jun 16, 2018)
1-3068981-G-C			Likely benign (Aug 23, 2019)
1-3069056-AGGC-A			Benign (Oct 25, 2019)
1-3069243-T-C		not specified	Likely benign (Apr 24, 2017)
1-3069246-C-A		not specified	Benign/Likely benign (Aug 19, 2023)
1-3069264-G-A		Left ventricular noncompaction 8	Uncertain significance (Nov 27, 2020)
1-3069264-G-C			Uncertain significance (May 27, 2022)
1-3069280-G-A		Left ventricular noncompaction 8	Likely benign (Dec 22, 2024)
1-3069287-C-T		Left ventricular noncompaction 8	Likely benign (Sep 25, 2020)
1-3069289-A-G		Left ventricular noncompaction 8	Likely benign (Sep 10, 2023)
1-3069307-C-A		Left ventricular noncompaction 8	Likely benign (Oct 21, 2024)
1-3069313-CGGCCGCGCCGCGCCGCCGGGGCCCGGGCCGCCG-C		Left ventricular noncompaction 8	Likely benign (Jun 11, 2022)
1-3069321-C-G			Benign (Jun 15, 2018)
1-3069544-T-TC			Likely benign (Dec 03, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP