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NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jul 15, 2006
Accession:
VCV000013469.1
Variation ID:
13469
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter)

Allele ID
28508
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5045270 (GRCh38) GRCh38 UCSC
12: 5154436 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154436G>T
NC_000012.12:g.5045270G>T
NG_012198.1:g.6352G>T
NM_002234.4:c.1123G>T MANE Select NP_002225.2:p.Glu375Ter nonsense
Protein change
E375*
Other names
-
Canonical SPDI
NC_000012.12:5045269:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA123122
OMIM: 176267.0001
dbSNP: rs121908590
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jul 15, 2006 RCV000014411.26
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNA5 - - GRCh38
GRCh37
254 312

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 15, 2006)
no assertion criteria provided
Method: literature only
ATRIAL FIBRILLATION, FAMILIAL, 7
Allele origin: germline
OMIM
Accession: SCV000034660.2
Submitted: (Dec 30, 2010)
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
Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Olson TM Human molecular genetics 2006 PMID: 16772329

Text-mined citations for rs121908590...

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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