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NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 15, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000046042.8
Variation ID:
46042
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)

Allele ID
55207
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71439838 (GRCh38) GRCh38 UCSC
10: 73199595 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73199595C>T
NC_000010.11:g.71439838C>T
NG_008835.1:g.47892C>T
... more HGVS
Protein change
R3C
Other names
-
Canonical SPDI
NC_000010.11:71439837:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.13698 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.09549
Trans-Omics for Precision Medicine (TOPMed) 0.12268
Trans-Omics for Precision Medicine (TOPMed) 0.12764
The Genome Aggregation Database (gnomAD), exomes 0.04547
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.12339
1000 Genomes Project 0.13698
The Genome Aggregation Database (gnomAD) 0.11197
The Genome Aggregation Database (gnomAD) 0.12266
Links
ClinGen: CA137585
dbSNP: rs7902757
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 Dec 5, 2020 RCV000086977.5
Benign 2 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000273869.3
Benign 2 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000331245.3
Benign 1 criteria provided, single submitter Jun 2, 2009 RCV000039278.2
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001276795.1
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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
2168 2608

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841482.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jun 02, 2009)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062962.5
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: SCV000363540.3
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 12
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363541.3
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 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001719499.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1D
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001750257.1
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: SCV001750258.1
Submitted: (Jul 14, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001871407.1
Submitted: (Sep 15, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001463344.1
Submitted: (Dec 28, 2020)
Evidence details
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
NEI Ophthalmic Genomics Laboratory,National Institutes of Health
Accession: SCV000119230.1
Submitted: (Mar 16, 2011)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs7902757...

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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 27, 2021