NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter) AND Developmental and epileptic encephalopathy, 7

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002221973.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)]

NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)

Gene:

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

Variant type:

single nucleotide variant

Preferred name:

NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)

HGVS:

NC_000020.11:g.63472415C>A
NG_009004.2:g.5226G>T
NM_001382235.1:c.49G>T
NM_004518.6:c.49G>T
NM_172106.3:c.49G>T
NM_172107.4:c.49G>TMANE SELECT
NM_172108.5:c.49G>T
NM_172109.3:c.49G>T
NP_001369164.1:p.Glu17Ter
NP_004509.2:p.Glu17Ter
NP_742104.1:p.Glu17Ter
NP_742105.1:p.Glu17Ter
NP_742106.1:p.Glu17Ter
NP_742107.1:p.Glu17Ter
NC_000020.10:g.62103768C>A
NM_172107.2:c.49G>T

Protein change:

E17*

Links:

dbSNP: rs2145922320

Condition(s)

Name:: Developmental and epileptic encephalopathy, 7 (DEE7)
Synonyms:: Early infantile epileptic encephalopathy 7; KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:: MONDO: MONDO:0013387; MedGen: C3150986; Orphanet: 439218; OMIM: 613720

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002499268	Génétique des Maladies du Développement, Hospices Civils de Lyon	no assertion criteria provided	Likely pathogenic	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002499268

Génétique des Maladies du Développement, Hospices Civils de Lyon

no assertion criteria provided

Likely pathogenic

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV002499268.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 23, 2024

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