NM_000441.2(SLC26A4):c.1615-2A>G AND Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jan 18, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001335321.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1615-2A>G]

NM_000441.2(SLC26A4):c.1615-2A>G

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.1615-2A>G
HGVS:
  • NC_000007.14:g.107700081A>G
  • NG_008489.1:g.44447A>G
  • NM_000441.2:c.1615-2A>GMANE SELECT
  • NC_000007.13:g.107340526A>G
  • NM_000441.1:c.1615-2A>G
Molecular consequence:
  • NM_000441.2:c.1615-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001528448Baylor Geneticscriteria provided, single submitter
Pathogenic
(Jan 18, 2018)
maternalclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001792215Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospitalcriteria provided, single submitter
Likely pathogenicgermlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot provided1yesresearch

Citations

PubMed

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.

Simões-Teixeira H, Matos TD, Marques MC, Dias O, Andrea M, Barreiros E, Barreiros L, Moreno F, Fialho G, Caria H, Del Castillo I.

Am J Med Genet A. 2011 Apr;155A(4):924-7. doi: 10.1002/ajmg.a.33740. Epub 2011 Mar 17. No abstract available.

PubMed [citation]
PMID:
21416585

Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

Ladsous M, Vlaeminck-Guillem V, Dumur V, Vincent C, Dubrulle F, Dhaenens CM, Wémeau JL.

Thyroid. 2014 Apr;24(4):639-48. doi: 10.1089/thy.2013.0164. Epub 2014 Jan 20.

PubMed [citation]
PMID:
24224479
See all PubMed Citations (5)

Details of each submission

From Baylor Genetics, SCV001528448.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with Pendred syndrome [PMID 21416585, 24224479]

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

From Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital, SCV001792215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (2)

Description

in compound heterozygosis with the c.481T>A variant in a subject with bilateral non-syndromic sensorineural prelingual hearing loss (familial)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not provideddiscovery1not providednot providednot provided

Last Updated: Oct 24, 2021

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