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NM_022124.6(CDH23):c.204C>T (p.Gly68=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 16, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000045887.8
Variation ID:
45887
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.204C>T (p.Gly68=)

Allele ID
55052
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71510140 (GRCh38) GRCh38 UCSC
10: 73269897 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.71510140C>T
NG_008835.1:g.118194C>T
NM_001171930.2:c.204C>T NP_001165401.1:p.Gly68= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:71510139:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01358 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01290
The Genome Aggregation Database (gnomAD) 0.01418
The Genome Aggregation Database (gnomAD) 0.01296
Trans-Omics for Precision Medicine (TOPMed) 0.01475
The Genome Aggregation Database (gnomAD), exomes 0.00451
Exome Aggregation Consortium (ExAC) 0.00491
1000 Genomes Project 0.01358
Trans-Omics for Precision Medicine (TOPMed) 0.01398
Links
ClinGen: CA137309
dbSNP: rs116624130
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Oct 5, 2011 RCV000039120.3
Benign 2 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000891461.5
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000261646.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000319252.2
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001276798.1
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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
CDH23-AS1 - - - GRCh38 - 87

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001035280.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 05, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062802.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Gly68Gly in exon 4 of CDH23: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 12
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363546.3
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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1D
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363547.3
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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000313966.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001883901.1
Submitted: (Sep 16, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001463347.1
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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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 rs116624130...

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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