NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) AND Epileptic encephalopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000416958.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)]

NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)

Gene:

KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)

HGVS:

NC_000020.11:g.63439624C>T
NG_009004.2:g.38017G>A
NM_004518.6:c.901G>A
NM_172106.3:c.901G>A
NM_172107.4:c.901G>AMANE SELECT
NM_172108.5:c.901G>A
NM_172109.3:c.901G>A
NP_004509.2:p.Gly301Ser
NP_742104.1:p.Gly301Ser
NP_742105.1:p.Gly301Ser
NP_742106.1:p.Gly301Ser
NP_742107.1:p.Gly301Ser
NC_000020.10:g.62070977C>T
NM_172107.2:c.901G>A
NM_172107.3:c.901G>A

Protein change:

G301S

Links:

dbSNP: rs1057516099

NCBI 1000 Genomes Browser:

rs1057516099

Molecular consequence:

NM_004518.6:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172109.3:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Epileptic encephalopathy
Identifiers:: MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494520	Neurogenetics Laboratory - MEYER, AOU Meyer	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 16, 2016)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494520

Neurogenetics Laboratory - MEYER, AOU Meyer

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 16, 2016)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	no	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Neurogenetics Laboratory - MEYER, AOU Meyer, SCV000494520.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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