DNMBP-AS1

DNMBP antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:99927010-99959050

Previous symbols: [ "NCRNA00093" ]

Links

ENSG00000227695 ∙ NCBI:100188954 ∙ ∙ HGNC:20431 ∙ ∙ ∙ 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 DNMBP-AS1 gene.

• Inborn genetic diseases (29 variants)
• Cataract 48 (3 variants)
• not provided (2 variants)
• DNMBP-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNMBP-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			1
splice region						0
non coding	1		25	6	2	34
Total	1	0	26	6	2

Highest pathogenic variant AF is 0.00000658

Variants in DNMBP-AS1

This is a list of pathogenic ClinVar variants found in the DNMBP-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
10-99929621-G-C		DNMBP-related disorder	Benign (Feb 18, 2019)
10-99929632-C-T		DNMBP-related disorder	Benign (Sep 30, 2019)
10-99929633-G-A		DNMBP-related disorder	Benign (Nov 25, 2019)
10-99929961-T-C		DNMBP-related disorder	Benign (May 28, 2019)
10-99930339-C-T		DNMBP-related disorder	Benign (Oct 28, 2019)
10-99930364-C-T		DNMBP-related disorder	Benign (Apr 11, 2019)
10-99930606-C-T		DNMBP-related disorder	Uncertain significance (Jan 03, 2023)
10-99930622-A-G		DNMBP-related disorder	Benign (Feb 18, 2019)
10-99930658-G-A		DNMBP-related disorder	Benign (Apr 05, 2019)
10-99955231-T-C		not specified	Uncertain significance (Aug 13, 2021)
10-99955252-T-C		not specified	Uncertain significance (Feb 09, 2022)
10-99955283-T-C		not specified	Uncertain significance (Aug 13, 2021)
10-99955285-T-C		not specified	Uncertain significance (May 23, 2023)
10-99955366-C-T		not specified	Likely benign (Nov 17, 2022)
10-99955433-T-C		not specified	Likely benign (Feb 16, 2023)
10-99955474-C-T		not specified	Likely benign (Jan 24, 2024)
10-99955492-T-C		DNMBP-related disorder	Benign (Feb 22, 2019)
10-99955496-G-A		not specified	Uncertain significance (Nov 01, 2022)
10-99955525-G-A		not specified	Uncertain significance (Jan 24, 2023)
10-99955546-C-T		not specified	Uncertain significance (Mar 23, 2023)
10-99955547-G-A		not specified	Uncertain significance (Mar 07, 2024)
10-99955591-T-A		not specified	Uncertain significance (Sep 13, 2023)
10-99955600-A-G		not specified	Uncertain significance (Aug 08, 2023)
10-99955633-C-T		not specified	Uncertain significance (Mar 15, 2024)
10-99955657-T-C		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP