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NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Jul 14, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000046026.5
Variation ID:
46026
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln)

Allele ID
55191
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71799129 (GRCh38) GRCh38 UCSC
10: 73558886 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73558886G>A
NM_022124.6:c.7073G>A MANE Select NP_071407.4:p.Arg2358Gln missense
NC_000010.10:g.73558886G>A
... more HGVS
Protein change
R2358Q, R118Q
Other names
p.R2358Q:CGG>CAG
Canonical SPDI
NC_000010.11:71799128:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.34125 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.30808
The Genome Aggregation Database (gnomAD) 0.29034
The Genome Aggregation Database (gnomAD), exomes 0.31487
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.26201
1000 Genomes Project 0.34125
Trans-Omics for Precision Medicine (TOPMed) 0.29455
Links
ClinGen: CA137561
dbSNP: rs4747194
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Feb 27, 2017 RCV000039262.4
Benign 2 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000299226.3
Benign 2 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000356417.3
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001510615.1
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001274908.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDH23 - - GRCh38
GRCh37
2166 2606

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 08, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000167621.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
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 … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000313995.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Feb 27, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000706585.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 12
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363853.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1D
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001750574.1
Submitted: (Jul 14, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 12
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001750575.1
Submitted: (Jul 14, 2021)
Evidence details
Benign
(Jun 12, 2009)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062946.5
Submitted: (Mar 21, 2019)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1D
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363854.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001717703.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001459461.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CDH23 - - - -

Text-mined citations for rs4747194...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 20, 2021