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NM_005266.6(GJA5):c.-175G>A

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000368829.2
Variation ID:
368829
Description:
single nucleotide variant
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NM_005266.6(GJA5):c.-175G>A

Allele ID
353058
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.2
Genomic location
1: 147773393 (GRCh38) GRCh38 UCSC
1: 147245497 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.147245497C>T
NC_000001.11:g.147773393C>T
NG_009369.2:g.4982G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:147773392:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.18830 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.19047
1000 Genomes Project 0.18830
The Genome Aggregation Database (gnomAD) 0.19061
Links
ClinGen: CA10654426
dbSNP: rs35594137
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000316019.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJA5 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
104 376

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Atrial Fibrillation
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000482958.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (1)

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
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Groenewegen WA Circulation research 2003 PMID: 12522116

Text-mined citations for rs35594137...

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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 Sep 29, 2021