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NM_000166.6(GJB1):c.-77G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 26, 2018)
Last evaluated:
Dec 22, 2016
Accession:
VCV000384473.1
Variation ID:
384473
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.-77G>A

Allele ID
378612
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71223275 (GRCh38) GRCh38 UCSC
X: 70443125 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.70443125G>A
NC_000023.11:g.71223275G>A
NM_000166.6:c.-77G>A MANE Select 5 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:71223274:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00556 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00555
The Genome Aggregation Database (gnomAD) 0.00456
1000 Genomes Project 0.00556
Links
ClinGen: CA16608578
dbSNP: rs190676487
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 22, 2016 RCV000428344.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJB1 - - GRCh38
GRCh37
596 728

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 22, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613502.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(May 17, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000525309.4
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)

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 rs190676487...

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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 Feb 27, 2021