DM1-AS

DM1 locus antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 19:45767796-45772504

Links

ENSG00000267395 ∙ NCBI:109729182 ∙ ∙ HGNC:53125 ∙ ∙ ∙ 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 DM1-AS gene.

• Steinert myotonic dystrophy syndrome (191 variants)
• not provided (74 variants)
• Inborn genetic diseases (19 variants)
• Branchiootorenal syndrome 2 (10 variants)
• not specified (8 variants)
• SIX5-related condition (5 variants)
• Myotonic dystrophy (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DM1-AS 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)			3			3
splice region						0
non coding	172		50	46	20	288
Total	172	0	53	46	20

Highest pathogenic variant AF is 0.000694

Variants in DM1-AS

This is a list of pathogenic ClinVar variants found in the DM1-AS region.

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

Position	Type	Phenotype	Significance	ClinVar
19-45767919-G-T			Benign (Nov 12, 2018)
19-45768053-C-A			Likely benign (Aug 04, 2023)
19-45768071-G-C		SIX5-related disorder	Likely benign (Jul 17, 2019)
19-45768113-C-T		not specified	Benign/Likely benign (Jan 29, 2024)
19-45768123-G-A			Uncertain significance (Oct 17, 2022)
19-45768125-C-T			Likely benign (Mar 05, 2018)
19-45768131-G-C			Conflicting classifications of pathogenicity (Oct 16, 2023)
19-45768139-T-C			Uncertain significance (Dec 09, 2023)
19-45768141-G-A		not specified	Uncertain significance (Mar 01, 2024)
19-45768147-C-T		not specified	Uncertain significance (Dec 01, 2022)
19-45768158-G-T			Uncertain significance (Oct 09, 2023)
19-45768174-C-G		not specified	Uncertain significance (Dec 19, 2022)
19-45768177-T-C		Branchiootorenal syndrome 2	Uncertain significance (Jul 09, 2021)
19-45768189-C-T			Uncertain significance (Mar 04, 2022)
19-45768192-G-C		not specified	Uncertain significance (Nov 14, 2023)
19-45768209-G-A			Likely benign (Aug 17, 2023)
19-45768217-C-T			Uncertain significance (Jun 22, 2022)
19-45768219-T-C			Uncertain significance (Aug 21, 2022)
19-45768221-G-A			Benign/Likely benign (Dec 07, 2023)
19-45768228-T-C		not specified	Uncertain significance (Jun 26, 2015)
19-45768231-A-G		SIX5-related disorder	Uncertain significance (Apr 04, 2024)
19-45768241-C-A			Uncertain significance (Jan 26, 2023)
19-45768242-G-A		Branchiootorenal syndrome 2	Likely benign (Feb 28, 2022)
19-45768243-C-A			Uncertain significance (Apr 12, 2022)
19-45768245-G-A			Likely benign (Oct 13, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP