NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) AND Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Clinical significance:Pathogenic (Last evaluated: Feb 26, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000770865.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)]

NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
HGVS:
  • NC_000007.14:g.107696015del
  • NG_008489.1:g.40381del
  • NM_000441.2:c.1520delMANE SELECT
  • NP_000432.1:p.Leu506_Leu507insTer
  • NC_000007.13:g.107336459del
  • NC_000007.13:g.107336460del
  • NM_000441.1:c.1520del
  • NM_000441.1:c.1520delT
Links:
dbSNP: rs786204601
NCBI 1000 Genomes Browser:
rs786204601
Molecular consequence:
  • NM_000441.2:c.1520del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000902374Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospitalno assertion criteria providedPathogenic
(Feb 26, 2019)
inheritedcase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes6868not providednot providedyescase-control

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902374.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided68not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided68not provided68not provided

Last Updated: Oct 7, 2021

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