PVT1

Chr 8

Pvt1 oncogene

Also known as: LINC00079, MIR1204HG, NCRNA00079, TP53LC09, onco-lncRNA-100

PVT1 encodes a long non-coding RNA that regulates the proto-oncogene MYC and is controlled by the tumor suppressor p53. Variants in this gene are associated with end-stage renal disease attributed to type 1 diabetes, while increased expression is linked to various cancers including breast cancer, ovarian cancer, acute myeloid leukemia, and Hodgkin lymphoma. The inheritance pattern for diabetes-associated variants is not specified in the available data.

Summary from RefSeq
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0
Active trials
123
Pubs (1 yr)
55
P/LP submissions
P/LP missense
LOEUF
Mechanism
Clinical SummaryPVT1
📋
ClinVar Variants
55 unique Pathogenic / Likely Pathogenic· 1 VUS of 69 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

69 submitted variants in ClinVar

Classification Summary

Pathogenic54
Likely Pathogenic1
VUS1
Likely Benign1
54
Pathogenic
1
Likely Pathogenic
1
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
54
Likely Pathogenic
1
VUS
1
Likely Benign
1
Benign
0
Total57

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PVT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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