NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) AND Pendred syndrome

Clinical significance:Likely pathogenic (Last evaluated: Sep 7, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409402.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)]

NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)

Genes:
SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
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.142G>T (p.Glu48Ter)
HGVS:
  • NC_000007.14:g.107661783G>T
  • NG_008489.1:g.6149G>T
  • NM_000441.2:c.142G>TMANE SELECT
  • NP_000432.1:p.Glu48Ter
  • NC_000007.13:g.107302228G>T
  • NM_000441.1:c.142G>T
  • NR_028137.1:n.16C>A
Protein change:
E48*
Links:
dbSNP: rs201636911
NCBI 1000 Genomes Browser:
rs201636911
Molecular consequence:
  • NR_028137.1:n.16C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000441.2:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000486931Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 7, 2016)
unknownclinical testing

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

Details of each submission

From Counsyl, SCV000486931.1

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

Last Updated: Oct 7, 2021

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