POLG-DT

POLG divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 15:89334583-89336161

Links

ENSG00000261441 ∙ ∙ ∙ HGNC:55363 ∙ ∙ ∙ 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 POLG-DT gene.

• Progressive sclerosing poliodystrophy (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

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

Variants in POLG-DT

This is a list of pathogenic ClinVar variants found in the POLG-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
15-89334622-C-T			Likely benign (Jul 02, 2019)
15-89334628-G-A			Likely benign (Jun 29, 2018)
15-89334667-G-A		POLG-Related Spectrum Disorders	Uncertain significance (Jan 12, 2018)
15-89334683-A-T		POLG-Related Spectrum Disorders	Uncertain significance (Jun 04, 2021)
15-89334685-G-T			Uncertain significance (Aug 18, 2017)
15-89334698-CT-GG		not specified	Likely benign (Apr 16, 2013)
15-89334712-AC-A		POLG-Related Spectrum Disorders	Benign/Likely benign (Apr 08, 2021)
15-89334754-G-A		POLG-Related Spectrum Disorders	Uncertain significance (Jan 12, 2018)
15-89334775-G-A		POLG-Related Spectrum Disorders	Uncertain significance (Apr 27, 2017)
15-89335160-T-C		Progressive sclerosing poliodystrophy	Benign (Dec 08, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP