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NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
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
Links:
dbSNP: rs1315422549
NCBI 1000 Genomes Browser:
rs1315422549
Molecular consequence:
  • NM_000441.2:c.754T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 4 (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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572607Precision Medicine Center, Zhengzhou University
no assertion criteria provided
Pathogenicgermlineresearch

Help

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: Apr 6, 2024