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NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Oct 30, 2017
Accession:
VCV000542665.1
Variation ID:
542665
Description:
single nucleotide variant
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NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys)

Allele ID
515007
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p13.3
Genomic location
1: 110604539 (GRCh38) GRCh38 UCSC
1: 111147161 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.111147161G>A
NC_000001.11:g.110604539G>A
NM_001204269.2:c.244C>T NP_001191198.1:p.Arg82Cys missense
... more HGVS
Protein change
R82C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1433727837
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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 Oct 30, 2017 RCV000653136.1
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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
Uncertain significance
(Oct 30, 2017)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 32
Allele origin: germline
Invitae
Accession: SCV000775012.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 82 of the KCNA2 protein (p.Arg82Cys). The arginine residue is highly conserved and there is a ... (more)

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 25, 2019