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NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) AND Pendred syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 14, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001831400.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)]

NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)

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.170C>A (p.Ser57Ter)
HGVS:
  • NC_000007.14:g.107663301C>A
  • NG_008489.1:g.7667C>A
  • NM_000441.2:c.170C>AMANE SELECT
  • NP_000432.1:p.Ser57Ter
  • NC_000007.13:g.107303746C>A
  • NM_000441.1:c.170C>A
Protein change:
S57*
Links:
dbSNP: rs111033200
NCBI 1000 Genomes Browser:
rs111033200
Molecular consequence:
  • NM_000441.2:c.170C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pendred syndrome (PDS)
Synonyms:
DEAFNESS WITH GOITER; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002079965Natera, Inc.
no assertion criteria provided
Pathogenic
(Apr 14, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002079965.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024