NM_172107.4(KCNQ2):c.2599T>C (p.Trp867Arg) AND Developmental and epileptic encephalopathy, 7

Germline classification:: Uncertain significance (1 submission)
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:: RCV003456329.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2599T>C (p.Trp867Arg)]

NM_172107.4(KCNQ2):c.2599T>C (p.Trp867Arg)

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.2599T>C (p.Trp867Arg)

HGVS:

NC_000020.11:g.63406664A>G
NG_009004.2:g.70977T>C
NM_001382235.1:c.2653T>C
NM_004518.6:c.2515T>C
NM_172106.3:c.2545T>C
NM_172107.4:c.2599T>CMANE SELECT
NM_172108.5:c.2506T>C
NP_001369164.1:p.Trp885Arg
NP_004509.2:p.Trp839Arg
NP_742104.1:p.Trp849Arg
NP_742105.1:p.Trp867Arg
NP_742106.1:p.Trp836Arg
NC_000020.10:g.62038017A>G

Protein change:

W836R

Molecular consequence:

NM_001382235.1:c.2653T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004518.6:c.2515T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.2545T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.2599T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.2506T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004177266	Institute of Human Genetics, University Hospital of Duesseldorf	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004177266

Institute of Human Genetics, University Hospital of Duesseldorf

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

not provided

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	germline	yes	not provided	not provided	not provided	not provided	not provided	not provided

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 Institute of Human Genetics, University Hospital of Duesseldorf, SCV004177266.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

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

Last Updated: Dec 30, 2023

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