NM_000441.1(SLC26A4):c.2086C>T (p.Gln696Ter) AND Pendred's syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 29, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169591.1

Allele description [Variation Report for NM_000441.1(SLC26A4):c.2086C>T (p.Gln696Ter)]

NM_000441.1(SLC26A4):c.2086C>T (p.Gln696Ter)

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_000441.1(SLC26A4):c.2086C>T (p.Gln696Ter)
HGVS:
  • NC_000007.14:g.107704382C>T
  • NG_008489.1:g.48748C>T
  • NM_000441.1:c.2086C>T
  • NP_000432.1:p.Gln696Ter
  • NC_000007.13:g.107344827C>T
Protein change:
Q696*
Links:
dbSNP: rs752807925
NCBI 1000 Genomes Browser:
rs752807925
Allele Frequency:
0.00002(T)
Molecular consequence:
  • NM_000441.1:c.2086C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221099Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 29, 2015)
unknownliterature only

PubMed (5)
[See all records that cite these PMIDs]

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

Chai Y, Huang Z, Tao Z, Li X, Li L, Li Y, Wu H, Yang T.

Am J Med Genet A. 2013 Sep;161A(9):2226-33. doi: 10.1002/ajmg.a.36068. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23918157

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

Huang S, Han D, Yuan Y, Wang G, Kang D, Zhang X, Yan X, Meng X, Dong M, Dai P.

J Transl Med. 2011 Sep 30;9:167. doi: 10.1186/1479-5876-9-167.

PubMed [citation]
PMID:
21961810
PMCID:
PMC3204245
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000221099.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018