NM_000441.2(SLC26A4):c.1614+1G>T AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001381665.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1614+1G>T]

NM_000441.2(SLC26A4):c.1614+1G>T

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.1614+1G>T
HGVS:
  • NC_000007.14:g.107698112G>T
  • NG_008489.1:g.42478G>T
  • NM_000441.2:c.1614+1G>TMANE SELECT
  • NC_000007.13:g.107338557G>T
Molecular consequence:
  • NM_000441.2:c.1614+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001580156Invitaecriteria provided, single submitter
Pathogenic
(Jun 9, 2020)
germlineclinical testing

PubMed (9)
[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

Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.

Fugazzola L, Cerutti N, Mannavola D, Crino A, Cassio A, Gasparoni P, Vannucchi G, Beck-Peccoz P.

Pediatr Res. 2002 Apr;51(4):479-84.

PubMed [citation]
PMID:
11919333

Two missense mutations in SLC26A4 gene: a molecular and functional study.

Rebeh IB, Yoshimi N, Hadj-Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S, Miyazaki H.

Clin Genet. 2010 Jul;78(1):74-80. doi: 10.1111/j.1399-0004.2009.01360.x. Epub 2009 Dec 2.

PubMed [citation]
PMID:
20128824
See all PubMed Citations (9)

Details of each submission

From Invitae, SCV001580156.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This sequence change affects a donor splice site in intron 14 of the SLC26A4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with SLC26A4-related conditions (PMID: 11919333, 20128824, 18167283). 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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: May 14, 2021

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