NM_000307.5(POU3F4):c.862_865del (p.Val289fs) AND X-linked mixed hearing loss with perilymphatic gusher

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1995
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000012447.23

Allele description [Variation Report for NM_000307.5(POU3F4):c.862_865del (p.Val289fs)]

NM_000307.5(POU3F4):c.862_865del (p.Val289fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq21.1

Genomic location:

Preferred name:

NM_000307.5(POU3F4):c.862_865del (p.Val289fs)

HGVS:

NC_000023.11:g.83509186_83509189del
NG_009936.2:g.5926_5929del
NM_000307.5:c.862_865delMANE SELECT
NP_000298.3:p.Val289fs
NC_000023.10:g.82764194_82764197del
NM_000307.4:c.862_865del

Note:

NCBI staff reviewed the sequence information reported in PubMed 7581392 Fig. 1a to determine the location of this allele on the current reference sequence.

Protein change:

V289fs

Links:

OMIM: 300039.0006; dbSNP: rs730882189

NCBI 1000 Genomes Browser:

rs730882189

Molecular consequence:

NM_000307.5:c.862_865del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000032681	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032681

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1995)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al.

Hum Mol Genet. 1995 Aug;4(8):1467-9. No abstract available.

PubMed [citation]

PMID:: 7581392

Details of each submission

From OMIM, SCV000032681.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 brothers with mixed hearing loss and established perilymphatic gusher (DFNX2; 304400) in 1 and in their asymptomatic mother, Bitner-Glindzicz et al. (1995) demonstrated a 4-bp deletion at bases 862-866 of their clone located in the homeodomain which resulted in a frameshift.

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

Last Updated: Jul 16, 2023

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