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NM_000441.2(SLC26A4):c.918+2T>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 29, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003565925.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.918+2T>A]

NM_000441.2(SLC26A4):c.918+2T>A

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.918+2T>A
HGVS:
  • NC_000007.14:g.107683356T>A
  • NG_008489.1:g.27722T>A
  • NM_000441.2:c.918+2T>AMANE SELECT
  • NC_000007.13:g.107323801T>A
Molecular consequence:
  • NM_000441.2:c.918+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004311737Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 29, 2023) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

Chai Y, Huang Z, Tao Z, Li X, Li L, Li Y, Wu H, Yang T.

Am J Med Genet A. 2013 Sep;161A(9):2226-33. doi: 10.1002/ajmg.a.36068. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23918157

Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.

Gonçalves AC, Santos R, O'Neill A, Escada P, Fialho G, Caria H.

Acta Otorhinolaryngol Ital. 2016 Jun;36(3):233-8. doi: 10.14639/0392-100X-889.

PubMed [citation]
PMID:
27214836
PMCID:
PMC4977012
See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004311737.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with clinical features of Pendred syndrome and/or deafness (PMID: 23918157, 27214836). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 7 of the SLC26A4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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).

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

Last Updated: Sep 29, 2024