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NM_022124.6(CDH23):c.6163C>T (p.Leu2055=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000751310.4
Variation ID:
751310
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.6163C>T (p.Leu2055=)

Allele ID
767934
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71791245 (GRCh38) GRCh38 UCSC
10: 73551002 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73551002C>T
NC_000010.11:g.71791245C>T
NM_022124.6:c.6163C>T MANE Select NP_071407.4:p.Leu2055= synonymous
NG_008835.1:g.399299C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:71791244:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00027
Exome Aggregation Consortium (ExAC) 0.00027
Trans-Omics for Precision Medicine (TOPMed) 0.00014
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00045
Links
dbSNP: rs536022792
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV000928358.3
Uncertain significance 1 no assertion criteria provided Jan 24, 2020 RCV001275569.1
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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
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001073968.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 24, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001460818.1
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 rs536022792...

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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 Jun 14, 2021