U.S. flag

An official website of the United States government

NM_002700.3(POU4F3):c.662_675del (p.Gly221fs) AND Autosomal dominant nonsyndromic hearing loss 15

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 4, 2010
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:
RCV000087754.4

Allele description [Variation Report for NM_002700.3(POU4F3):c.662_675del (p.Gly221fs)]

NM_002700.3(POU4F3):c.662_675del (p.Gly221fs)

Genes:
POU4F3:POU class 4 homeobox 3 [Gene - OMIM - HGNC]
LOC127814297:RBM27-POU4F3 [Gene]
Variant type:
Deletion
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs)
HGVS:
  • NC_000005.10:g.146340089_146340102del
  • NG_011885.1:g.6066_6079del
  • NM_002700.3:c.662_675delMANE SELECT
  • NP_002691.1:p.Gly221fs
  • LRG_1355t1:c.662_675del
  • LRG_1355:g.6066_6079del
  • LRG_1355p1:p.Gly221fs
  • NC_000005.9:g.145719652_145719665del
  • NM_002700.2:c.662_675del
Protein change:
G221fs
Links:
OMIM: 602460.0005; dbSNP: rs1064792854
NCBI 1000 Genomes Browser:
rs1064792854
Molecular consequence:
  • NM_002700.3:c.662_675del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 15
Synonyms:
Deafness, autosomal dominant 15; DEAFNESS, AUTOSOMAL DOMINANT 52
Identifiers:
MONDO: MONDO:0011226; MedGen: C1865366; Orphanet: 90635; OMIM: 602459

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000120649OMIM
no assertion criteria provided
Pathogenic
(Jun 4, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss.

Lee HK, Park HJ, Lee KY, Park R, Kim UK.

Biochem Biophys Res Commun. 2010 Jun 4;396(3):626-30. doi: 10.1016/j.bbrc.2010.04.132. Epub 2010 Apr 29. Erratum in: Biochem Biophys Res Commun. 2010 Aug 6;398(4):790.

PubMed [citation]
PMID:
20434433

Details of each submission

From OMIM, SCV000120649.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 44-year-old Korean woman with autosomal dominant hearing loss (DFNA15; 602459), Lee et al. (2010) identified a heterozygous 14-bp deletion (c.662del14) in exon 2 of the POU4F3 gene, resulting in a frameshift and premature termination (Glu221fs) and a protein lacking both functional POU domains. The patient developed progressive sensorineural hearing loss beginning at age 20 years. In vitro expression studies showed that the mutant protein lost most of its nuclear localization as well as transcriptional activity. Family history revealed affected family members spanning 4 generations. The proband was 1 of 42 unrelated Korean patients with autosomal dominant nonsyndromic hearing loss who were sequenced for POU4F3 mutations.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 18, 2024