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NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del) AND Rare genetic deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 8, 2013
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:
RCV000150273.4

Allele description [Variation Report for NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del)]

NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del)
HGVS:
  • NC_000010.11:g.71645936_71645956del
  • NG_008835.1:g.253990_254010del
  • NM_001171930.2:c.1246_1266del
  • NM_001171931.2:c.1246_1266del
  • NM_022124.6:c.1246_1266delMANE SELECT
  • NM_052836.4:c.1246_1266del
  • NP_001165401.1:p.Ala416_Glu422del
  • NP_001165402.1:p.Ala416_Glu422del
  • NP_071407.4:p.Ala416_Glu422del
  • NP_443068.1:p.Ala416_Glu422del
  • NC_000010.10:g.73405692_73405712del
  • NC_000010.10:g.73405693_73405713del
  • NM_022124.5:c.1246_1266del
  • c.1246_1266del
Links:
dbSNP: rs397517305
NCBI 1000 Genomes Browser:
rs397517305
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000197291Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Sep 8, 2013) 		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, SCV000197291.4

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

Description

The Ala416_Glu422del variant in CDH23 has been identified in an individual with hearing loss by our laboratory who was compound heterozygous. It has not been i dentified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). This variant causes an in-frame deletion of 7 amino acids conserved in mammals and ac ross evolutionarily distant species, which is likely to impact protein function. I n summary, this variant is likely pathogenic, though additional studies are r equired to fully establish its clinical significance.

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

Last Updated: Feb 20, 2024