NM_000441.2(SLC26A4):c.599del (p.Gln200fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001385109.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.599del (p.Gln200fs)]

NM_000441.2(SLC26A4):c.599del (p.Gln200fs)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.599del (p.Gln200fs)
HGVS:
  • NC_000007.14:g.107674347del
  • NG_008489.1:g.18713del
  • NM_000441.2:c.599delMANE SELECT
  • NP_000432.1:p.Gln200fs
  • NC_000007.13:g.107314792del
  • NC_000007.13:g.107314792delA
Protein change:
Q200fs
Links:
Molecular consequence:
  • NM_000441.2:c.599del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001584855Invitaecriteria provided, single submitter
Pathogenic
(Jul 27, 2017)
germlineclinical testing

PubMed (6)
[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

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

Ben Said M, Dhouib H, BenZina Z, Ghorbel A, Moreno F, Masmoudi S, Ayadi H, Hmani-Aifa M.

Int J Pediatr Otorhinolaryngol. 2012 Jun;76(6):832-6. doi: 10.1016/j.ijporl.2012.02.053. Epub 2012 Mar 18.

PubMed [citation]
PMID:
22429511
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001584855.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Gln200Argfs*2) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC26A4-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 22429511, 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: May 14, 2021

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