GeneBe

HMMR-AS1

HMMR antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:163483065-163494058

Links

ENSG00000251018 ∙ NCBI:101927813 ∙ ∙ HGNC:49149 ∙ ∙ ∙ 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 HMMR-AS1 gene.

  • Inborn genetic diseases (11 variants)
  • not provided (2 variants)
  • Ovarian cancer (2 variants)
  • Familial cancer of breast (1 variants)
  • Breast cancer, susceptibility to (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HMMR-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)
1
clinvar
 1
splice region
0
non coding
1
clinvar
12
clinvar
1
clinvar
2
clinvar
 16
Total 0 1 12 1 3

Highest pathogenic variant AF is 0.0000263

Variants in HMMR-AS1

This is a list of pathogenic ClinVar variants found in the HMMR-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
5-163483120-C-T not specified Uncertain significance (Mar 01, 2023)3106323
5-163483130-A-G Benign (Apr 26, 2018)792019
5-163483133-A-T not specified Uncertain significance (Nov 08, 2022)2324779
5-163483159-G-C Benign (Apr 26, 2018)792020
5-163483272-G-A Ovarian cancer Benign (Jan 01, 2022)2445300
5-163483313-T-G not specified Likely benign (Nov 08, 2022)2324044
5-163483324-G-A not specified Uncertain significance (Feb 22, 2023)2473367
5-163483339-A-T not specified Uncertain significance (Nov 24, 2024)3526017
5-163484084-T-G not specified Uncertain significance (Oct 07, 2024)3526014
5-163484123-G-A not specified Uncertain significance (Aug 02, 2021)2407812
5-163484134-A-T not specified Uncertain significance (Nov 10, 2022)2339447
5-163484160-A-G not specified Uncertain significance (Nov 22, 2023)3106325
5-163484211-T-C Breast cancer, susceptibility to Uncertain significance (Dec 23, 2021)1683760
5-163484222-G-A not specified Uncertain significance (Jun 06, 2023)2509629
5-163484223-A-T not specified Uncertain significance (Oct 20, 2024)3526006
5-163484252-A-G Familial cancer of breast Uncertain significance (Jul 05, 2022)2431655
5-163490393-G-T not specified Uncertain significance (Jun 30, 2022)2299603
5-163490441-A-G not specified Uncertain significance (Jan 10, 2022)2395235
5-163490463-A-C not specified Uncertain significance (Jun 30, 2023)2608956
5-163490486-G-T Ovarian cancer Likely pathogenic (Jan 01, 2022)2445322
5-163490498-G-C not specified Uncertain significance (Nov 15, 2021)2261250
5-163490523-A-G not specified Uncertain significance (Jul 12, 2022)2360693

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP