MVP-DT

MVP divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:29808636-29821252

Links

ENSG00000238045 ∙ ∙ ∙ HGNC:56029 ∙ ∙ ∙ 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 MVP-DT gene.

• Episodic kinesigenic dyskinesia (374 variants)
• not provided (167 variants)
• Inborn genetic diseases (69 variants)
• not specified (48 variants)
• Episodic kinesigenic dyskinesia 1 (32 variants)
• Seizures, benign familial infantile, 2 (26 variants)
• Infantile convulsions and choreoathetosis (23 variants)
• PRRT2-related condition (7 variants)
• Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1;Infantile convulsions and choreoathetosis (6 variants)
• Seizure (4 variants)
• Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2;Infantile convulsions and choreoathetosis (2 variants)
• PRRT2-Associated Paroxysmal Movement Disorders (2 variants)
• Infantile convulsions and choreoathetosis;Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1 (2 variants)
• Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 (1 variants)
• Neurodevelopmental delay (1 variants)
• See cases (1 variants)
• PRRT2 insufficiency (1 variants)
• lethal neurodevelopmental disorder (1 variants)
• PRRT2-related disorder (1 variants)
• Complex febrile seizure (1 variants)
• PRRT2-Related Disorders (1 variants)
• Paroxysmal nonkinesigenic dyskinesia 1 (1 variants)
• Hyperactivity;Seizure;Global developmental delay;Intellectual disability, profound (1 variants)
• Self-limited familial infantile epilepsy (1 variants)
• Infantile convulsions and choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 (1 variants)
• Episodic kinesigenic dyskinesia 1;Infantile convulsions and choreoathetosis;Seizures, benign familial infantile, 2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MVP-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	82	36	245	157	12	532
Total	82	36	245	157	12

Highest pathogenic variant AF is 0.0000854

Variants in MVP-DT

This is a list of pathogenic ClinVar variants found in the MVP-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
16-29809549-C-A		not specified	Uncertain significance (Jul 12, 2023)
16-29809603-G-A		not specified	Uncertain significance (Jan 23, 2024)
16-29809651-C-T		not specified	Uncertain significance (Dec 03, 2021)
16-29809692-G-A		not specified	Uncertain significance (May 30, 2023)
16-29809720-C-T		not specified	Uncertain significance (Jan 31, 2024)
16-29809724-G-C		not specified	Uncertain significance (Sep 15, 2021)
16-29809730-G-C		not specified	Uncertain significance (Sep 15, 2021)
16-29810108-AGCGGCAGCG-A			Likely benign (Feb 01, 2023)
16-29810132-A-G			Likely benign (Dec 01, 2022)
16-29812021-T-C			Benign (Apr 16, 2019)
16-29812298-GGAGCTGTCCGGAGGCCGGCGTCGAGGTGA-G		not specified	Likely benign (Sep 12, 2017)
16-29812324-G-A			Uncertain significance (Aug 14, 2014)
16-29812342-G-A			Likely benign (May 23, 2018)
16-29812954-C-CCCTCCTCACCCCAAGCCTATCT		not specified	Likely benign (Jan 11, 2017)
16-29812974-TCTC-T			Likely benign (Nov 23, 2022)
16-29812987-C-CA			Uncertain significance (May 17, 2018)
16-29812989-G-A		Seizures, benign familial infantile, 2	Pathogenic (Jan 13, 2022)
16-29812997-C-T		not specified	Likely benign (Apr 06, 2017)
16-29812998-G-A		not specified	Likely benign (Aug 12, 2016)
16-29813023-C-T		not specified	Likely benign (Feb 12, 2016)
16-29813025-T-C			Benign/Likely benign (Aug 30, 2018)
16-29813029-GGCTCTCTCCCCTCTCCCATCTCAAGATGGCAGCCAGCA-G		Episodic kinesigenic dyskinesia	Uncertain significance (Aug 09, 2022)
16-29813030-G-C		not specified	Likely benign (Aug 31, 2016)
16-29813036-T-TC			Likely benign (Apr 05, 2018)
16-29813059-C-A		Episodic kinesigenic dyskinesia	Uncertain significance (Jan 25, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP