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NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000215740.5

Allele description [Variation Report for NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)]

NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)

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.6866A>G (p.Asn2289Ser)
HGVS:
  • NC_000010.11:g.71798390A>G
  • NG_008835.1:g.406444A>G
  • NM_001171933.1:c.146A>G
  • NM_001171934.1:c.146A>G
  • NM_022124.6:c.6866A>GMANE SELECT
  • NP_001165404.1:p.Asn49Ser
  • NP_001165405.1:p.Asn49Ser
  • NP_071407.4:p.Asn2289Ser
  • NC_000010.10:g.73558147A>G
  • NM_022124.5:c.6866A>G
  • NM_022124.6(CDH23):c.6866A>GMANE SELECT
  • p.(Asn2289Ser)
Protein change:
N2289S
Links:
dbSNP: rs876657756
NCBI 1000 Genomes Browser:
rs876657756
Molecular consequence:
  • NM_001171933.1:c.146A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171934.1:c.146A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.6866A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000271567Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Feb 7, 2016) 		germlineclinical testing

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

Help

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, Mass General Brigham Personalized Medicine, SCV000271567.2

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

Description

The p.Asn2289Ser variant in CDH23 has not been previously reported in individual s with hearing loss and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Asn2289Ser variant is u ncertain.

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

Last Updated: Feb 28, 2024