NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 4, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000488403.6

Allele description [Variation Report for NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)]

NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)

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.365dup (p.Ile124fs)
Other names:
NM_000441.1(SLC26A4):c.365dupT
HGVS:
  • NC_000007.14:g.107672198dup
  • NG_008489.1:g.16564dup
  • NM_000441.2:c.365dupMANE SELECT
  • NP_000432.1:p.Ile124fs
  • NC_000007.13:g.107312637_107312638insT
  • NC_000007.13:g.107312643dup
  • NM_000441.1:c.365dup
  • NM_000441.1:c.365dupT
  • NM_000441.2:c.365dupTMANE SELECT
Protein change:
I124fs
Links:
dbSNP: rs786204730
NCBI 1000 Genomes Browser:
rs786204730
Molecular consequence:
  • NM_000441.2:c.365dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000575531CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Sep 1, 2016)
germlineclinical testing

Citation Link,

SCV000947141Invitaecriteria provided, single submitter
Pathogenic
(Jun 4, 2019)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.

Park HJ, Lee SJ, Jin HS, Lee JO, Go SH, Jang HS, Moon SK, Lee SC, Chun YM, Lee HK, Choi JY, Jung SC, Griffith AJ, Koo SK.

Clin Genet. 2005 Feb;67(2):160-5.

PubMed [citation]
PMID:
15679828

Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

Chattaraj P, Reimold FR, Muskett JA, Shmukler BE, Chien WW, Madeo AC, Pryor SP, Zalewski CK, Butman JA, Brewer CC, Kenna MA, Alper SL, Griffith AJ.

JAMA Otolaryngol Head Neck Surg. 2013 Sep;139(9):907-13. doi: 10.1001/jamaoto.2013.4185. Erratum in: JAMA Otolaryngol Head Neck Surg. 2014 Dec;140(12):1212.

PubMed [citation]
PMID:
24051746
See all PubMed Citations (7)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000575531.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Invitae, SCV000947141.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Ile124Tyrfs*58) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773738163, ExAC 0.006%). This variant has been observed in several individuals affected with enlarged vestibular aqueduct (PMID: 15679828, 24051746). ClinVar contains an entry for this variant (Variation ID: 189148). 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 6, 2021

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