NM_022124.5(CDH23):c.5663T>C (p.Phe1888Ser) AND Deafness, autosomal recessive 12

Clinical significance:Pathogenic (Last evaluated: Apr 14, 2005)

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:
RCV000005206.4

Allele description [Variation Report for NM_022124.5(CDH23):c.5663T>C (p.Phe1888Ser)]

NM_022124.5(CDH23):c.5663T>C (p.Phe1888Ser)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.5(CDH23):c.5663T>C (p.Phe1888Ser)
HGVS:
  • NC_000010.11:g.71785051T>C
  • NG_008835.1:g.393105T>C
  • NM_022124.5:c.5663T>C
  • NP_071407.4:p.Phe1888Ser
  • NC_000010.10:g.73544808T>C
Protein change:
F1888S; PHE1888SER
Links:
OMIM: 605516.0010; dbSNP: rs121908352
NCBI 1000 Genomes Browser:
rs121908352
Molecular consequence:
  • NM_022124.5:c.5663T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 12 (DFNB12)
Identifiers:
MedGen: C1832394; Orphanet: 90636; OMIM: 601386

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025383OMIMno assertion criteria providedPathogenic
(Apr 14, 2005)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ.

N Engl J Med. 2005 Apr 14;352(15):1557-64. Erratum in: N Engl J Med. 2005 Jun 2;352(22):2362.

PubMed [citation]
PMID:
15829536

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

Noben-Trauth K, Zheng QY, Johnson KR.

Nat Genet. 2003 Sep;35(1):21-3. Epub 2003 Aug 10.

PubMed [citation]
PMID:
12910270
PMCID:
PMC2864026

Details of each submission

From OMIM, SCV000025383.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 5 sibs, born of consanguineous parents, with autosomal recessive deafness-12 (DFNB12; 601386), Schultz et al. (2005) identified a homozygous 5663T-C transition in exon 42 of the CDH23 gene, resulting in a phe1888-to-ser (F1888S) substitution in the extracellular domain of the protein. Two of the sibs had high frequency hearing loss and 3 had severe to profound hearing loss affecting all frequencies. The 3 severely affected sibs were heterozygous for a val586-to-met substitution in the ATP2B2 gene (V586M; 108733.0001). Variants in ATP2B2, the plasma membrane calcium pump, modulate the severity of hearing loss in mice with mutations in the CDH23 gene (Noben-Trauth et al., 2003).

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

Last Updated: Jun 17, 2019

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