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NM_181703.4(GJA5):c.744C>A (p.Cys248Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 1, 2019)
Last evaluated:
Nov 28, 2018
Accession:
VCV000632079.1
Variation ID:
632079
Description:
single nucleotide variant
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NM_181703.4(GJA5):c.744C>A (p.Cys248Ter)

Allele ID
619949
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.2
Genomic location
1: 147758495 (GRCh38) GRCh38 UCSC
1: 147230603 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.147230603G>T
NC_000001.11:g.147758495G>T
NG_009369.2:g.19880C>A
... more HGVS
Protein change
C248*
Other names
-
Canonical SPDI
NC_000001.11:147758494:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1557942871
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 Nov 28, 2018 RCV000778936.1
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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
(Nov 28, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915353.1
Submitted: (Feb 01, 2019)
Evidence details
Comment:
The GJA5 c.744C>A (p.Cys248Ter) variant is a stop gained variant predicted to result in premature termination of the protein. A literature search was performed for … (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 rs1557942871...

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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