NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter) AND X-linked mixed hearing loss with perilymphatic gusher

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002508348.1

Allele description [Variation Report for NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)]

NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)

Gene:

POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

Preferred name:

NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)

HGVS:

NC_000023.11:g.83509305T>A
NG_009936.2:g.6045T>A
NM_000307.5:c.981T>AMANE SELECT
NP_000298.3:p.Cys327Ter
NC_000023.10:g.82764313T>A

Protein change:

C327*

Molecular consequence:

NM_000307.5:c.981T>A - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

alternatively terminated mRNA [Variation Ontology: 0497]

Condition(s)

Name:: X-linked mixed hearing loss with perilymphatic gusher
Synonyms:: Deafness, X-linked 2; Deafness conductive with stapes fixation; Deafness 3 conductive with stapes fixation; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010576; MedGen: C1844678; Orphanet: 383; OMIM: 304400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002549748	Institute for Pharmacology and Toxicology, Paracelsus Medical University	no classification provided	not provided	unknown, not applicable	case-control, in vitro	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002549748

Institute for Pharmacology and Toxicology, Paracelsus Medical University

no classification provided

not provided

unknown, not applicable

case-control, in vitro

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
Caucasian	unknown	yes	1	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation.

Bernardinelli E, Roesch S, Simoni E, Marino A, Rasp G, Astolfi L, Sarikas A, Dossena S.

Front Mol Neurosci. 2022;15:999833. doi: 10.3389/fnmol.2022.999833.

PubMed [citation]

PMID:: 36245926
PMCID:: PMC9558712

Details of each submission

From Institute for Pharmacology and Toxicology, Paracelsus Medical University, SCV002549748.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)
2	Caucasian	1	not provided	not provided	case-control	PubMed (1)

Description

Transcriptional activity of the variant protein product was determined by dual luciferase assay

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 26, 2023

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