NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000797602.3

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000937168Invitaecriteria provided, single submitter
Pathogenic
(Feb 25, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R.

Clin Genet. 2005 Dec;68(6):506-12.

PubMed [citation]
PMID:
16283880

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

Soh LM, Druce M, Grossman AB, Differ AM, Rajput L, Bitner-Glindzicz M, Korbonits M.

Eur J Endocrinol. 2015 Feb;172(2):217-26. doi: 10.1530/EJE-14-0679. Epub 2014 Nov 13.

PubMed [citation]
PMID:
25394566
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV000937168.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Glu48*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SLC26A4-related disease. ClinVar contains an entry for this variant (Variation ID: 371369). Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 8, 2021

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