NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp) AND Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Clinical significance:Likely 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:
RCV000770864.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp)]

NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp)

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.1343C>G (p.Ser448Trp)
HGVS:
  • NC_000007.14:g.107694622C>G
  • NG_008489.1:g.38988C>G
  • NM_000441.2:c.1343C>GMANE SELECT
  • NP_000432.1:p.Ser448Trp
  • NC_000007.13:g.107335067C>G
Protein change:
S448W
Links:
dbSNP: rs747076316
NCBI 1000 Genomes Browser:
rs747076316
Molecular consequence:
  • NM_000441.2:c.1343C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000902373Genetic 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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes33not 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, SCV000902373.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided3not provided

Last Updated: Oct 7, 2021

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