NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) AND Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Clinical significance:Pathogenic, Affects (Last evaluated: Aug 20, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001004625.3

Allele description [Variation Report for NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)]

NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)

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.439A>G (p.Met147Val)
HGVS:
  • NC_000007.14:g.107674187A>G
  • NG_008489.1:g.18553A>G
  • NM_000441.2:c.439A>GMANE SELECT
  • NP_000432.1:p.Met147Val
  • NC_000007.13:g.107314632A>G
  • NM_000441.1:c.439A>G
  • p.Met147Val
Protein change:
M147V
Links:
dbSNP: rs760413427
NCBI 1000 Genomes Browser:
rs760413427
Molecular consequence:
  • NM_000441.2:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (DFNB4)
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000994869National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center

See additional submitters

no assertion criteria providedAffects
(Aug 20, 2019)
germlineclinical testing, in vitro

PubMed (6)
[See all records that cite these PMIDs]

SCV001572603Precision Medicine Center,Zhengzhou Universityno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch, in vitro, clinical testing

Citations

PubMed

Heterogeneity in the processing defect of SLC26A4 mutants.

Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, Koo SK, Park HY, Lee WS, Kim KH, Lee MG.

J Med Genet. 2008 Jul;45(7):411-9. doi: 10.1136/jmg.2007.054635. Epub 2008 Feb 29.

PubMed [citation]
PMID:
18310264
See all PubMed Citations (6)

Details of each submission

From National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center, SCV000994869.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
2not providednot providednot providednot providedin vitro PubMed (6)

Description

in vitro experiment

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided
2germlineyesnot providednot providedassert pathogenicitynot providednot providednot providednot provided

From Precision Medicine Center,Zhengzhou University, SCV001572603.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

PP1: Segregation in one affected relative PM2_Supporting: gnomAD East Asian allele frequency = 0.0001087< 0.00007 PM3_VeryStrong: Pathogenic mutation confirmed in trans in three patients and phase unknown in six patients PP3: REVEL score >0.7 PP4: Patient's phenotype highly specific for gene

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

Last Updated: Sep 29, 2021

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