NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) AND Pendred syndrome

Clinical significance:Likely pathogenic (Last evaluated: Sep 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411132.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)]

NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)

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.1225C>T (p.Arg409Cys)
HGVS:
  • NC_000007.14:g.107690199C>T
  • NG_008489.1:g.34565C>T
  • NM_000441.2:c.1225C>TMANE SELECT
  • NP_000432.1:p.Arg409Cys
  • NC_000007.13:g.107330644C>T
  • NM_000441.1:c.1225C>T
Protein change:
R409C
Links:
dbSNP: rs147952620
NCBI 1000 Genomes Browser:
rs147952620
Molecular consequence:
  • NM_000441.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000486998Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 22, 2016)
unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.

Wu CC, Lu YC, Chen PJ, Yeh PL, Su YN, Hwu WL, Hsu CJ.

Audiol Neurootol. 2010;15(1):57-66. doi: 10.1159/000231567. Epub 2009 Aug 1.

PubMed [citation]
PMID:
19648736

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P.

PLoS One. 2012;7(11):e49984. doi: 10.1371/journal.pone.0049984. Epub 2012 Nov 21.

PubMed [citation]
PMID:
23185506
PMCID:
PMC3503781
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000486998.1

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

Last Updated: Oct 7, 2021

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