NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) AND Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Clinical significance:Pathogenic

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375686.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)]

NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)

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.754T>C (p.Ser252Pro)
HGVS:
  • NC_000007.14:g.107675098T>C
  • NG_008489.1:g.19464T>C
  • NM_000441.2:c.754T>CMANE SELECT
  • NP_000432.1:p.Ser252Pro
  • NC_000007.13:g.107315543T>C
Protein change:
S252P
Molecular consequence:
  • NM_000441.2:c.754T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001572607Precision Medicine Center,Zhengzhou Universityno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Precision Medicine Center,Zhengzhou University, SCV001572607.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

PM2: gnomAD genomes East Asian allele frequency =0.00005437<0.00007 PM3_VeryStrong: Pathogenic mutation confirmed in trans in five 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: Oct 7, 2021

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