GeneBe

RUNX1-AS1

Basic information

Region (hg38): 21:34836286-34884882

Links

ENSG00000286153 ∙ ∙ ∙ HGNC:56821 ∙ ∙ ∙ 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 RUNX1-AS1 gene.

  • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome (35 variants)
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 (28 variants)
  • not provided (12 variants)
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1;Acute myeloid leukemia (3 variants)
  • RUNX1-related disorder (3 variants)
  • Thrombocytopenia (3 variants)
  • Acute myeloid leukemia (2 variants)
  • Inherited bleeding disorder, platelet-type (1 variants)
  • Abnormal bleeding;Thrombocytopenia (1 variants)
  • Inborn genetic diseases (1 variants)
  • Abnormal platelet function (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RUNX1-AS1 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
37
clinvar
26
clinvar
136
clinvar
74
clinvar
11
clinvar
 284
Total 37 26 136 74 11

Highest pathogenic variant AF is 0.00000658

Variants in RUNX1-AS1

This is a list of pathogenic ClinVar variants found in the RUNX1-AS1 region.

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

Position Type Phenotype Significance ClinVar
21-34859316-G-A Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Benign (Aug 28, 2024)1199613
21-34859366-C-T Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Benign (Sep 10, 2024)1219872
21-34859454-C-A Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Sep 18, 2024)1965125
21-34859454-C-T Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Nov 04, 2024)2996406
21-34859455-C-T Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Jan 15, 2025)1639860
21-34859456-C-G Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Nov 13, 2023)1600673
21-34859458-A-G Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Jan 15, 2025)2000867
21-34859459-A-G Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Nov 04, 2024)1585169
21-34859460-G-C Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Jun 24, 2024)1597566
21-34859462-G-A Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Uncertain significance (Jan 15, 2025)2759147
21-34859466-G-A Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Benign (Aug 02, 2019)339876
21-34859467-C-T Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Jul 07, 2022)532680
21-34859468-A-G Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Uncertain significance (Jul 25, 2024)1475629
21-34859473-C-T Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Likely pathogenic (Aug 09, 2022)2023119
21-34859475-T-C Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Uncertain significance (Oct 29, 2024)2751155
21-34859476-C-T Thrombocytopenia • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Abnormal bleeding;Thrombocytopenia • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Pathogenic (Mar 26, 2024)561253
21-34859477-G-A Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Thrombocytopenia • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Pathogenic (Mar 26, 2024)561252
21-34859477-G-C Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely pathogenic (Dec 09, 2023)2177591
21-34859485-C-T Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Pathogenic (Jul 30, 2019)14464
21-34859485-C-CG Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Pathogenic (Dec 09, 2023)1073884
21-34859486-G-A Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • RUNX1-related disorder • Inborn genetic diseases • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Pathogenic (Sep 04, 2024)376018
21-34859487-G-A Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Likely benign (Jan 22, 2022)1120421
21-34859488-G-T Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Uncertain significance (Aug 12, 2024)1004688
21-34859489-G-A Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Uncertain significance (Oct 29, 2024)1684411
21-34859489-GCCCATCCA-G Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Pathogenic (Dec 09, 2023)1706546

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP