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NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 30, 2017)
Last evaluated:
Mar 27, 2017
Accession:
VCV000438297.1
Variation ID:
438297
Description:
single nucleotide variant
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NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val)

Allele ID
431924
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.33
Genomic location
20: 63445276 (GRCh38) GRCh38 UCSC
20: 62076629 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.62076629C>A
NC_000020.11:g.63445276C>A
NG_009004.2:g.32365G>T
... more HGVS
Protein change
G159V
Other names
-
Canonical SPDI
NC_000020.11:63445275:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA409655208
dbSNP: rs1057516081
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 no assertion criteria provided Mar 27, 2017 RCV000505231.1
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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
1273 1356

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 27, 2017)
no assertion criteria provided
Method: clinical testing
Early infantile epileptic encephalopathy 7
Allele origin: de novo
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals
Accession: SCV000599268.1
Submitted: (May 30, 2017)
Evidence details

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 rs1057516081...

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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 Nov 27, 2021