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NM_000441.2(SLC26A4):c.2182dup (p.Tyr728fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2022
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:
RCV003555365.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2182dup (p.Tyr728fs)]

NM_000441.2(SLC26A4):c.2182dup (p.Tyr728fs)

Genes:
LOC123956210:Sharpr-MPRA regulatory region 3291 [Gene]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.2182dup (p.Tyr728fs)
HGVS:
  • NC_000007.14:g.107710146dup
  • NG_008489.1:g.54512dup
  • NG_078404.1:g.383dup
  • NM_000441.2:c.2182dupMANE SELECT
  • NP_000432.1:p.Tyr728fs
  • NC_000007.13:g.107350590_107350591insT
  • NC_000007.13:g.107350591dup
Protein change:
Y728fs
Molecular consequence:
  • NM_000441.2:c.2182dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004295508Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 16, 2022) 		germlineclinical testing

PubMed (6)
[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

[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province].

Ji YB, Han DY, Wang DY, Zhou Y, Zhao C, Wang H, Lan L, Wang QJ.

Zhonghua Yi Xue Za Zhi. 2009 Sep 29;89(36):2531-5. Chinese.

PubMed [citation]
PMID:
20137612

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
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004295508.1

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant is also known as 2182-2183insT. This premature translational stop signal has been observed in individual(s) with clinical features of SLC26A4-related conditions (PMID: 20137612). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr728Leufs*26) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. 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