NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup) AND Seizures, benign familial neonatal, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000990334.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup)]

NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup)

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.696_698dup (p.Val233dup)

HGVS:

NC_000020.11:g.63442525_63442527dup
NG_009004.2:g.35115_35117dup
NM_004518.6:c.696_698dup
NM_172106.3:c.696_698dup
NM_172107.4:c.696_698dupMANE SELECT
NM_172108.5:c.696_698dup
NM_172109.3:c.696_698dup
NP_004509.2:p.Val233dup
NP_742104.1:p.Val233dup
NP_742105.1:p.Val233dup
NP_742106.1:p.Val233dup
NP_742107.1:p.Val233dup
NC_000020.10:g.62073876_62073877insACC
NC_000020.10:g.62073878_62073880dup

Links:

dbSNP: rs1600767259

NCBI 1000 Genomes Browser:

rs1600767259

Molecular consequence:

NM_004518.6:c.696_698dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_172106.3:c.696_698dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_172107.4:c.696_698dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_172108.5:c.696_698dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_172109.3:c.696_698dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Seizures, benign familial neonatal, 1
Synonyms:: Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:: MONDO: MONDO:0007365; MedGen: C3149074; Orphanet: 1949; OMIM: 121200

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001141277	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001141277

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141277.1

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

Last Updated: May 24, 2022

ClinVar

Relating variation to medicine