NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 6, 2020)

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:
RCV000734009.3

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)]

NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)

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.1673A>G (p.Asn558Ser)
HGVS:
  • NC_000007.14:g.107700141A>G
  • NG_008489.1:g.44507A>G
  • NM_000441.2:c.1673A>GMANE SELECT
  • NP_000432.1:p.Asn558Ser
  • NC_000007.13:g.107340586A>G
  • NM_000441.1:c.1673A>G
Protein change:
N558S
Links:
dbSNP: rs766206507
NCBI 1000 Genomes Browser:
rs766206507
Molecular consequence:
  • NM_000441.2:c.1673A>G - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000862118EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 12, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV001758466GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 6, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Cengiz FB, Yilmazer R, Olgun L, Sennaroglu L, Kirazli T, Alper H, Olgun Y, Incesulu A, Atik T, Huesca-Hernandez F, Domínguez-Aburto J, González-Rosado G, Hernandez-Zamora E, Arenas-Sordo ML, Menendez I, Orhan KS, Avci H, Mahdieh N, Bonyadi M, Foster J 2nd, Duman D, Ozkinay F, et al.

Int J Pediatr Otorhinolaryngol. 2017 Oct;101:167-171. doi: 10.1016/j.ijporl.2017.08.006. Epub 2017 Aug 8.

PubMed [citation]
PMID:
28964290
PMCID:
PMC5679420

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000862118.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001758466.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28964290)

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

Last Updated: Sep 23, 2021

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