NM_172107.4(KCNQ2):c.2285_2287dup (p.Ser762dup) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 2020
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:: RCV001347662.8

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2285_2287dup (p.Ser762dup)]

NM_172107.4(KCNQ2):c.2285_2287dup (p.Ser762dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_172107.4(KCNQ2):c.2285_2287dup (p.Ser762dup)

HGVS:

NC_000020.11:g.63406978_63406980dup
NG_009004.2:g.70663_70665dup
NM_001382235.1:c.2339_2341dup
NM_004518.6:c.2201_2203dup
NM_172106.3:c.2231_2233dup
NM_172107.4:c.2285_2287dupMANE SELECT
NM_172108.5:c.2192_2194dup
NP_001369164.1:p.Ser780dup
NP_004509.2:p.Ser734dup
NP_742104.1:p.Ser744dup
NP_742105.1:p.Ser762dup
NP_742106.1:p.Ser731dup
NC_000020.10:g.62038328_62038329insTGC
NC_000020.10:g.62038331_62038333dup

Links:

dbSNP: rs2079961029

NCBI 1000 Genomes Browser:

rs2079961029

Molecular consequence:

NM_001382235.1:c.2339_2341dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_004518.6:c.2201_2203dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_172106.3:c.2231_2233dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_172107.4:c.2285_2287dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_172108.5:c.2192_2194dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:: Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:: MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001541932	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 20, 2020)	germline	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

SCV001541932

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 20, 2020)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001541932.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with KCNQ2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant, c.2285_2287dup, results in the insertion of 1 amino acid(s) to the KCNQ2 protein (p.Ser762dup), but otherwise preserves the integrity of the reading frame.

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

Last Updated: Sep 29, 2024

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