GeneBe

MIR4733HG

MIR4733 host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 17:31061720-31096045

Links

ENSG00000264107 ∙ ∙ ∙ HGNC:55332 ∙ ∙ ∙ 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 MIR4733HG gene.

  • Neurofibromatosis, type 1 (121 variants)
  • Hereditary cancer-predisposing syndrome;Cardiovascular phenotype (33 variants)
  • not provided (21 variants)
  • Neurofibromatosis-Noonan syndrome (19 variants)
  • Café-au-lait macules with pulmonary stenosis (19 variants)
  • Neurofibromatosis, familial spinal (19 variants)
  • Cardiovascular phenotype;Hereditary cancer-predisposing syndrome (17 variants)
  • Hereditary cancer-predisposing syndrome (10 variants)
  • not specified (2 variants)
  • Abnormality of the skin (1 variants)
  • Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia (1 variants)
  • Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1 (1 variants)
  • Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia (1 variants)
  • NF1-related condition (1 variants)
  • Juvenile myelomonocytic leukemia (1 variants)
  • Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR4733HG 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)
1
clinvar
 1
splice region
0
non coding
24
clinvar
9
clinvar
72
clinvar
39
clinvar
1
clinvar
 145
Total 24 9 73 39 1

Variants in MIR4733HG

This is a list of pathogenic ClinVar variants found in the MIR4733HG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-31094947-T-C Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal • Neurofibromatosis, type 1 • Neurofibromatosis-Noonan syndrome Uncertain significance (Jan 12, 2018)890653
17-31094988-G-A Café-au-lait macules with pulmonary stenosis • Neurofibromatosis-Noonan syndrome • Neurofibromatosis, type 1 • Neurofibromatosis, familial spinal Uncertain significance (Jan 13, 2018)322553
17-31095020-TGTGGGGAGACGGCGCTA-T Neurofibromatosis, type 1 Uncertain significance (Nov 28, 2023)1380660
17-31095030-C-T Neurofibromatosis, type 1 Uncertain significance (Nov 24, 2023)2697306
17-31095037-A-G Neurofibromatosis, type 1 Pathogenic (Dec 07, 2023)1404731
17-31095037-A-T Neurofibromatosis, type 1 Uncertain significance (Dec 16, 2021)2130037
17-31095038-G-A Neurofibromatosis, type 1 Conflicting classifications of pathogenicity (Sep 23, 2023)1013130
17-31095038-G-C Neurofibromatosis, type 1 Pathogenic (Sep 06, 2023)1379698
17-31095045-G-C Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal • Neurofibromatosis-Noonan syndrome • Neurofibromatosis, type 1 Uncertain significance (Jan 12, 2018)891891
17-31095059-C-T Neurofibromatosis-Noonan syndrome • Neurofibromatosis, familial spinal • Neurofibromatosis, type 1 • Café-au-lait macules with pulmonary stenosis Uncertain significance (Jan 12, 2018)891892
17-31095058-G-GCC Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal • Neurofibromatosis-Noonan syndrome • Neurofibromatosis, type 1 Uncertain significance (Jun 14, 2016)322554
17-31095058-G-GCCC Neurofibromatosis-Noonan syndrome • Neurofibromatosis, type 1 • Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal Uncertain significance (Jun 14, 2016)322555
17-31095064-T-TC Neurofibromatosis-Noonan syndrome • Neurofibromatosis, familial spinal • Neurofibromatosis, type 1 • Café-au-lait macules with pulmonary stenosis Uncertain significance (Jun 14, 2016)322556
17-31095069-T-TC Neurofibromatosis-Noonan syndrome • Neurofibromatosis, type 1 • Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal Uncertain significance (Jun 14, 2016)322557
17-31095073-C-T Neurofibromatosis-Noonan syndrome • Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal • Neurofibromatosis, type 1 Uncertain significance (Jan 13, 2018)322558
17-31095081-C-G Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, type 1 • Neurofibromatosis, familial spinal • Neurofibromatosis-Noonan syndrome Uncertain significance (Jan 13, 2018)322559
17-31095101-C-A Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, type 1 • Neurofibromatosis, familial spinal • Neurofibromatosis-Noonan syndrome Uncertain significance (Jan 13, 2018)322560
17-31095137-C-G Neurofibromatosis-Noonan syndrome • Neurofibromatosis, type 1 • Neurofibromatosis, familial spinal • Café-au-lait macules with pulmonary stenosis Uncertain significance (Jan 12, 2018)322561
17-31095144-T-C Neurofibromatosis-Noonan syndrome • Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, type 1 • Neurofibromatosis, familial spinal Uncertain significance (Jan 13, 2018)890701
17-31095162-C-A Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, type 1 • Neurofibromatosis-Noonan syndrome • Neurofibromatosis, familial spinal • Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis Uncertain significance (Oct 27, 2021)322562
17-31095195-T-C Neurofibromatosis-Noonan syndrome • Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal • Neurofibromatosis, type 1 Uncertain significance (Jan 13, 2018)322563
17-31095226-C-T Neurofibromatosis-Noonan syndrome • Neurofibromatosis, type 1 • Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal Uncertain significance (Jan 12, 2018)322564
17-31095237-G-T Neurofibromatosis, type 1 • Neurofibromatosis, familial spinal • Neurofibromatosis-Noonan syndrome • Café-au-lait macules with pulmonary stenosis Uncertain significance (Jan 13, 2018)322565
17-31095259-C-T Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, familial spinal • Neurofibromatosis-Noonan syndrome • Neurofibromatosis, type 1 • not specified Uncertain significance (Apr 15, 2024)889509
17-31095288-G-C not specified • Neurofibromatosis, familial spinal • Neurofibromatosis-Noonan syndrome • Café-au-lait macules with pulmonary stenosis • Neurofibromatosis, type 1 Benign/Likely benign (Aug 01, 2024)257274

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP