NM_172107.4(KCNQ2):c.2092C>T (p.Gln698Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 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:: RCV001008690.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2092C>T (p.Gln698Ter)]

NM_172107.4(KCNQ2):c.2092C>T (p.Gln698Ter)

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.2092C>T (p.Gln698Ter)

HGVS:

NC_000020.11:g.63407171G>A
NG_009004.2:g.70470C>T
NM_004518.6:c.2008C>T
NM_172106.3:c.2038C>T
NM_172107.4:c.2092C>TMANE SELECT
NM_172108.5:c.1999C>T
NP_004509.2:p.Gln670Ter
NP_742104.1:p.Gln680Ter
NP_742105.1:p.Gln698Ter
NP_742106.1:p.Gln667Ter
NC_000020.10:g.62038524G>A
NM_172107.2:c.2092C>T

Protein change:

Q667*

Links:

dbSNP: rs1601544177

NCBI 1000 Genomes Browser:

rs1601544177

Molecular consequence:

NM_004518.6:c.2008C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172106.3:c.2038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172107.4:c.2092C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172108.5:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001168469	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168469

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 1, 2019)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV001168469.1

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

Description

The Q698X nonsense variant in the KCNQ2 gene is predicted to cause loss of normal protein function through protein truncation as the last 175 amino acids of the protein are lost. The Q698X variant is not observed in large population cohorts (Lek et al., 2016).

#	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: Apr 23, 2022

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