NM_000441.1(SLC26A4):c.1489G>A (p.Gly497Ser) AND Pendred's syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jul 18, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169242.1

Allele description

NM_000441.1(SLC26A4):c.1489G>A (p.Gly497Ser)

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.1489G>A (p.Gly497Ser)
HGVS:
  • NC_000007.14:g.107695984G>A
  • NG_008489.1:g.40350G>A
  • NM_000441.1:c.1489G>A
  • NP_000432.1:p.Gly497Ser
  • NC_000007.13:g.107336429G>A
  • O43511:p.Gly497Ser
  • c.1489G>A
Protein change:
G497S; GLY497SER
Links:
UniProtKB: O43511#VAR_007446; OMIM: 605646.0004; dbSNP: rs111033308
NCBI 1000 Genomes Browser:
rs111033308
Allele Frequency:
0.00003(A)
Molecular consequence:
  • NM_000441.1:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000220517Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 18, 2014)
unknownliterature only

PubMed (7)
[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

Heterogeneity in the processing defect of SLC26A4 mutants.

Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, Koo SK, Park HY, Lee WS, Kim KH, Lee MG.

J Med Genet. 2008 Jul;45(7):411-9. doi: 10.1136/jmg.2007.054635. Epub 2008 Feb 29.

PubMed [citation]
PMID:
18310264
See all PubMed Citations (7)

Details of each submission

From Counsyl, SCV000220517.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 6, 2018