NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) AND not specified

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Dec 10, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000039211.18

Allele description [Variation Report for NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)]

NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)

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.5418C>G (p.Asp1806Glu)

Other names:

p.D1806E:GAC>GAG

HGVS:

NC_000010.11:g.71784336C>G
NG_008835.1:g.392390C>G
NM_022124.6:c.5418C>GMANE SELECT
NP_071407.4:p.Asp1806Glu
NC_000010.10:g.73544093C>G
NM_001171932.1:c.*166856C>G
NM_022124.5:c.5418C>G
c.5418C>G

Protein change:

D1806E

Links:

dbSNP: rs74145660

NCBI 1000 Genomes Browser:

rs74145660

Molecular consequence:

NM_022124.6:c.5418C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000062895	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Mar 22, 2012)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16679490, 17850630, 24033266
SCV000167618	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (May 13, 2013)	germline	clinical testing	Citation Link,
SCV000230599	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (May 20, 2015)	germline	clinical testing	Citation Link,
SCV002051007	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Dec 10, 2021)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	51	50	not provided	not provided	not provided	clinical testing

Citations

PubMed

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration.

J Med Genet. 2006 Sep;43(9):763-8. Epub 2006 May 5.

PubMed [citation]

PMID:: 16679490
PMCID:: PMC2564578

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S.

Clin Genet. 2007 Oct;72(4):339-44.

PubMed [citation]

PMID:: 17850630

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062895.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	51	not provided	not provided	clinical testing	PubMed (3)

Description

Asp1806Glu in exon 42 of CDH23: This variant is not expected to have clinical si gnificance due to its occurrence at an equal frequency in cases compared to the general population (Roux 2006, Wagatsuma 2007) and is listed in dbSNP with 10/28 8 (3.5%) frequency (rs74145660).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		51	not provided	50	not provided

From GeneDx, SCV000167618.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000230599.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002051007.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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