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NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 2, 2018
Accession:
VCV000497690.1
Variation ID:
497690
Description:
single nucleotide variant
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NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys)

Allele ID
489114
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.33
Genomic location
20: 63472462 (GRCh38) GRCh38 UCSC
20: 62103815 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.62103815A>T
NC_000020.11:g.63472462A>T
NM_172107.4:c.2T>A MANE Select NP_742105.1:p.Met1Lys missense
... more HGVS
Protein change
M1K
Other names
-
Canonical SPDI
NC_000020.11:63472461:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA409636356
dbSNP: rs118192186
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 11, 2016 RCV000594914.1
Pathogenic 1 criteria provided, single submitter Dec 2, 2018 RCV000809476.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNQ2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1271 1354

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 11, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000702341.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Dec 02, 2018)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy with suppression bursts
Allele origin: germline
Invitae
Accession: SCV000949628.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects the initiator methionine of the KCNQ2 mRNA. The next in-frame methionine is located at codon 174. The frequency data for this … (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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Title Author Journal Year Link
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. Miceli F The Journal of neuroscience : the official journal of the Society for Neuroscience 2015 PMID: 25740509
De novo mutations in epileptic encephalopathies. Epi4K Consortium. Nature 2013 PMID: 23934111
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=KCNQ2 - - - -

Text-mined citations for rs118192186...

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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 May 07, 2021