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NM_004004.6(GJB2):c.*111C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 13, 2021)
Last evaluated:
Jun 24, 2018
Accession:
VCV000036278.4
Variation ID:
36278
Description:
single nucleotide variant
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NM_004004.6(GJB2):c.*111C>T

Allele ID
44942
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.11
Genomic location
13: 20188790 (GRCh38) GRCh38 UCSC
13: 20762929 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1350:g.9186C>T
LRG_1350t1:c.*111C>T
NC_000013.10:g.20762929G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:20188789:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.06949 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.06740
The Genome Aggregation Database (gnomAD) 0.06802
1000 Genomes Project 0.06949
The Genome Aggregation Database (gnomAD) 0.06120
Trans-Omics for Precision Medicine (TOPMed) 0.07235
Links
ClinGen: CA260409
dbSNP: rs7329857
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 Jan 13, 2018 RCV000029941.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000281606.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000348316.2
Benign 1 criteria provided, single submitter Jun 24, 2018 RCV001642241.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJB2 Dosage sensitivity unlikely No evidence available GRCh38
GRCh37
405 460

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 24, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001859591.1
Submitted: (Sep 13, 2021)
Evidence details
benign
(Aug 18, 2011)
criteria provided, single submitter
Method: curation
Autosomal Recessive Non-Syndromic Hearing Loss
(autosomal unknown)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052596.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Benign.
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 1A
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000382970.3
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 dominant 3a
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000382968.3
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
Hystrix-like ichthyosis with deafness
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000382969.3
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)

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
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Tang HY American journal of medical genetics. Part A 2006 PMID: 17041943

Text-mined citations for rs7329857...

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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 Dec 04, 2021