MIR96

microRNA 96, the group of MicroRNAs

Basic information

Region (hg38): 7:129774692-129774769

Previous symbols: [ "MIRN96", "DFNA50" ]

Links

ENSG00000199158 ∙ NCBI:407053 ∙ OMIM:611606 ∙ HGNC:31648 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autosomal dominant nonsyndromic hearing loss 50 (Moderate), mode of inheritance: AD
• autosomal dominant nonsyndromic hearing loss 50 (Strong), mode of inheritance: AD
• nonsyndromic genetic hearing loss (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal dominant 50	AD	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic	14757864; 19363479
Hearing loss was progressive, and was described in the earliest reported affected at 12 years in one family, while it occurred as early as 2-3 years of age in another family

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIR96 gene.

• not provided (6 variants)
• not specified (2 variants)
• Autosomal dominant nonsyndromic hearing loss 50 (2 variants)
• Hearing impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR96 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	2		4	3		9
Total	2	0	4	3	0

Variants in MIR96

This is a list of pathogenic ClinVar variants found in the MIR96 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-129774701-T-C			Uncertain significance (Feb 16, 2023)
7-129774702-T-C		Hearing impairment	Uncertain significance (Apr 12, 2021)
7-129774728-G-A		not specified	Benign/Likely benign (Aug 01, 2024)
7-129774731-G-A			Uncertain significance (Jul 04, 2021)
7-129774734-A-G		not specified	Benign/Likely benign (Mar 01, 2024)
7-129774756-G-A			Uncertain significance (Oct 04, 2022)
7-129774756-G-T		Autosomal dominant nonsyndromic hearing loss 50	Pathogenic (May 01, 2009)
7-129774757-C-T		Autosomal dominant nonsyndromic hearing loss 50	Pathogenic (May 01, 2009)
7-129774765-G-A			Likely benign (Nov 01, 2022)
7-129774766-G-A			Uncertain significance (Aug 10, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: MicroRNAs in cancer - Homo sapiens (human) (Consensus)

Mouse Genome Informatics

• Gene name: Mir96
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype