NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) AND Pendred syndrome

Clinical significance:Likely pathogenic (Last evaluated: Oct 24, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000984220.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)]

NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)

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.2171A>G (p.Asp724Gly)
HGVS:
  • NC_000007.14:g.107710135A>G
  • NG_008489.1:g.54501A>G
  • NM_000441.2:c.2171A>GMANE SELECT
  • NP_000432.1:p.Asp724Gly
  • NC_000007.13:g.107350580A>G
  • NM_000441.1:c.2171A>G
Protein change:
D724G
Links:
dbSNP: rs757820624
NCBI 1000 Genomes Browser:
rs757820624
Molecular consequence:
  • NM_000441.2:c.2171A>G - 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
SCV001132294Counsylno assertion criteria providedLikely pathogenic
(Oct 24, 2018)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D, Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL.

Physiol Genomics. 2009 Aug 7;38(3):281-90. doi: 10.1152/physiolgenomics.00047.2009. Epub 2009 Jun 9. Erratum in: Physiol Genomics. 2010 Feb;40(3):216.

PubMed [citation]
PMID:
19509082

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 (6)

Details of each submission

From Counsyl, SCV001132294.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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