NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys) AND Pendred syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1997)

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:
RCV000005081.3

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys)]

NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys)

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.2000T>G (p.Phe667Cys)
HGVS:
  • NC_000007.14:g.107702023T>G
  • NG_008489.1:g.46389T>G
  • NM_000441.2:c.2000T>GMANE SELECT
  • NP_000432.1:p.Phe667Cys
  • NC_000007.13:g.107342468T>G
  • O43511:p.Phe667Cys
Protein change:
F667C; PHE667CYS
Links:
UniProtKB: O43511#VAR_007447; OMIM: 605646.0001; dbSNP: rs121908360
NCBI 1000 Genomes Browser:
rs121908360
Molecular consequence:
  • NM_000441.2:c.2000T>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
SCV000025257OMIMno assertion criteria providedPathogenic
(Dec 1, 1997)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED.

Nat Genet. 1997 Dec;17(4):411-22.

PubMed [citation]
PMID:
9398842

Details of each submission

From OMIM, SCV000025257.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with Pendred syndrome (PDS; 274600), Everett et al. (1997) demonstrated that affected members had a homozygous T-to-G transversion in the SLC26A4 gene, predicted to cause a phe667-to-cys (F667C) amino acid substitution near the C terminus of the pendrin protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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