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NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 19, 2020
Accession:
VCV001034934.1
Variation ID:
1034934
Description:
single nucleotide variant
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NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter)

Allele ID
1022603
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.2
Genomic location
1: 147758714 (GRCh38) GRCh38 UCSC
1: 147230822 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.147230822G>C
NC_000001.11:g.147758714G>C
NG_009369.2:g.19661C>G
... more HGVS
Protein change
Y175*
Other names
-
Canonical SPDI
NC_000001.11:147758713:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Aug 19, 2020 RCV001337728.1
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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
(Aug 19, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 11
Atrial standstill 1
Allele origin: germline
Invitae
Accession: SCV001531340.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the GJA5 gene (p.Tyr175*). While this is not anticipated to result in nonsense mediated … (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.

Record last updated Oct 08, 2021