Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_022124.6(CDH23):c.4509C>T (p.Gly1503=)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000045949.4
Variation ID:
45949
Description:
single nucleotide variant
Help

NM_022124.6(CDH23):c.4509C>T (p.Gly1503=)

Allele ID
55114
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71740842 (GRCh38) GRCh38 UCSC
10: 73500599 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73500599C>T
NC_000010.11:g.71740842C>T
NG_008835.1:g.348896C>T
NM_022124.6:c.4509C>T MANE Select NP_071407.4:p.Gly1503=
Protein change
-
Other names
p.G1503G:GGC>GGT
Canonical SPDI
NC_000010.11:71740841:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.08287 (T)

Allele frequency
1000 Genomes Project 0.08287
Exome Aggregation Consortium (ExAC) 0.04328
The Genome Aggregation Database (gnomAD), exomes 0.04871
The Genome Aggregation Database (gnomAD) 0.03566
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02595
The Genome Aggregation Database (gnomAD) 0.03956
Trans-Omics for Precision Medicine (TOPMed) 0.04780
Trans-Omics for Precision Medicine (TOPMed) 0.05301
Links
ClinGen: CA137433
dbSNP: rs10999978
VarSome
Help

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 Mar 5, 2013 RCV000039183.3
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000354872.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000396032.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001521167.1
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001272897.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 05, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000167614.10
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
(Jun 12, 2009)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062867.5
Submitted: (Mar 21, 2019)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1D
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363745.3
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
Deafness, autosomal recessive 12
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363746.3
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: SCV001730452.1
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: SCV001455321.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
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

Help
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 rs10999978...

Help
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