NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) AND Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000515717.4

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)]

NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
HGVS:
  • NC_000007.14:g.107690148A>T
  • NG_008489.1:g.34514A>T
  • NM_000441.2:c.1174A>TMANE SELECT
  • NP_000432.1:p.Asn392Tyr
  • NC_000007.13:g.107330593A>T
  • NM_000441.1:c.1174A>T
  • p.Asn392Tyr
Protein change:
N392Y
Links:
dbSNP: rs201562855
NCBI 1000 Genomes Browser:
rs201562855
Molecular consequence:
  • NM_000441.2:c.1174A>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]
Observations:
2

Condition(s)

Name:
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (DFNB4)
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611812Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Centercriteria provided, single submitter
Pathogenic
(Jul 1, 2017)
germlineclinical testing

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

SCV000902368Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospitalno assertion criteria providedLikely pathogenic
(Feb 26, 2019)
inheritedcase-control

SCV000994882National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center

See additional submitters

no assertion criteria providedAffects
(Aug 20, 2019)
inherited, germlineclinical testing, in vitro

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing, in vitro
not providedinheritedyes22not providednot providedyescase-control, clinical testing

Citations

PubMed

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

Okamoto Y, Mutai H, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Morimoto N, Sakamoto H, Ogahara N, Takagi A, Taiji H, Kaga K, Ogawa K, Matsunaga T.

Laryngoscope. 2014 Apr;124(4):E134-40. doi: 10.1002/lary.24368. Epub 2013 Dec 17.

PubMed [citation]
PMID:
24105851

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ.

J Med Genet. 2003 Apr;40(4):242-8.

PubMed [citation]
PMID:
12676893
PMCID:
PMC1735432
See all PubMed Citations (10)

Details of each submission

From Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center, SCV000611812.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided2not provided

From National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center, SCV000994882.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
2not providednot providednot providednot providedin vitro PubMed (9)

Description

in vitro experiment

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided
2germlineyesnot providednot providedassert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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