NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) AND Pendred syndrome

Clinical significance:Likely pathogenic (Last evaluated: Dec 3, 2017)

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:
RCV000169324.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)]

NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)

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.235C>T (p.Arg79Ter)
HGVS:
  • NC_000007.14:g.107663366C>T
  • NG_008489.1:g.7732C>T
  • NM_000441.2:c.235C>TMANE SELECT
  • NP_000432.1:p.Arg79Ter
  • NC_000007.13:g.107303811C>T
  • NM_000441.1:c.235C>T
Protein change:
R79*
Links:
dbSNP: rs786204581
NCBI 1000 Genomes Browser:
rs786204581
Molecular consequence:
  • NM_000441.2:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pendred syndrome (PDS)
Synonyms:
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220657Counsylcriteria provided, single submitter
Likely pathogenic
(Aug 28, 2014)
unknownliterature only

PubMed (4)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV000746470Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Likely pathogenic
(Dec 3, 2017)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Kahrizi K, Mohseni M, Nishimura C, Bazazzadegan N, Fischer SM, Dehghani A, Sayfati M, Taghdiri M, Jamali P, Smith RJ, Azizi F, Najmabadi H.

Eur J Pediatr. 2009 Jun;168(6):651-3. doi: 10.1007/s00431-008-0809-8. Epub 2008 Sep 24.

PubMed [citation]
PMID:
18813951
PMCID:
PMC4428656

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.

Wu CC, Lu YC, Chen PJ, Liu AY, Hwu WL, Hsu CJ.

Laryngoscope. 2009 Dec;119(12):2411-6. doi: 10.1002/lary.20621.

PubMed [citation]
PMID:
19718752
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000220657.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000746470.1

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

Last Updated: Sep 29, 2021

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