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NM_004974.4(KCNA2):c.372G>A (p.Glu124=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Oct 23, 2018)
Last evaluated:
Dec 27, 2017
Accession:
VCV000444177.1
Variation ID:
444177
Description:
single nucleotide variant
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NM_004974.4(KCNA2):c.372G>A (p.Glu124=)

Allele ID
437817
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p13.3
Genomic location
1: 110604411 (GRCh38) GRCh38 UCSC
1: 111147033 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.111147033C>T
NC_000001.11:g.110604411C>T
NM_001204269.2:c.372G>A NP_001191198.1:p.Glu124= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00028
The Genome Aggregation Database (gnomAD) 0.00035
Trans-Omics for Precision Medicine (TOPMed) 0.00024
Exome Aggregation Consortium (ExAC) 0.00021
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Links
dbSNP: rs200499541
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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 Jun 30, 2017 RCV000512962.1
Likely benign 1 criteria provided, single submitter Dec 27, 2017 RCV000653140.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNA2 - - GRCh38
GRCh37
66 82

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 27, 2017)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 32
Allele origin: germline
Invitae
Accession: SCV000775016.1
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Jun 30, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000608492.4
Submitted: (Oct 23, 2018)
Evidence details

Citations for this variant

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 Aug 30, 2019