NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) AND not specified

Clinical significance:Uncertain significance (Last evaluated: May 13, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000392607.4

Allele description [Variation Report for NM_022124.6(CDH23):c.5647A>C (p.Asn1883His)]

NM_022124.6(CDH23):c.5647A>C (p.Asn1883His)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His)
HGVS:
  • NC_000010.11:g.71785035A>C
  • NG_008835.1:g.393089A>C
  • NM_022124.6:c.5647A>CMANE SELECT
  • NP_071407.4:p.Asn1883His
  • NC_000010.10:g.73544792A>C
  • NM_022124.5:c.5647A>C
Protein change:
N1883H
Links:
dbSNP: rs747488431
NCBI 1000 Genomes Browser:
rs747488431
Molecular consequence:
  • NM_022124.6:c.5647A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000712130Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(May 13, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000712130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Asn1883His variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome but has been identified in 18/66692 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs747488431); however, this frequency is not high enough to rule out pathogenicity. Computational prediction tools and conservation analyses sug gest that this variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of this variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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