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NM_181703.4(GJA5):c.496G>A (p.Gly166Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
May 20, 2018
Accession:
VCV000577850.1
Variation ID:
577850
Description:
single nucleotide variant
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NM_181703.4(GJA5):c.496G>A (p.Gly166Ser)

Allele ID
558102
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.2
Genomic location
1: 147758743 (GRCh38) GRCh38 UCSC
1: 147230851 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.147230851C>T
NC_000001.11:g.147758743C>T
NG_009369.2:g.19632G>A
... more HGVS
Protein change
G166S
Other names
-
Canonical SPDI
NC_000001.11:147758742:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs782065420
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 20, 2018 RCV000700700.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(May 20, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 11
Atrial standstill 1
Allele origin: germline
Invitae
Accession: SCV000829467.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with serine at codon 166 of the GJA5 protein (p.Gly166Ser). The glycine residue is weakly conserved and there is a … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs782065420...

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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 Oct 08, 2021