NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 9, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000187868.32

Allele description [Variation Report for NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)]

NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)

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.794C>T (p.Ala265Val)

Other names:

p.A265V:GCG>GTG; KCNQ2

HGVS:

NC_000020.11:g.63442428G>A
NG_009004.2:g.35213C>T
NM_004518.6:c.794C>T
NM_172106.3:c.794C>T
NM_172107.4:c.794C>TMANE SELECT
NM_172108.5:c.794C>T
NM_172109.3:c.794C>T
NP_004509.2:p.Ala265Val
NP_742104.1:p.Ala265Val
NP_742105.1:p.Ala265Val
NP_742106.1:p.Ala265Val
NP_742107.1:p.Ala265Val
NC_000020.10:g.62073781G>A
NM_172107.2:c.794C>T
NM_172107.3:c.794C>T

Protein change:

A265V; ALA265VAL

Links:

OMIM: 602235.0015; dbSNP: rs587777219

NCBI 1000 Genomes Browser:

rs587777219

Molecular consequence:

NM_004518.6:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172109.3:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000241468	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 9, 2022)	germline	clinical testing	Citation Link,
SCV000575317	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Aug 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000241468

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 9, 2022)

germline

clinical testing

Citation Link,

SCV000575317

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Aug 1, 2020)

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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000241468.14

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

Description

The majority of missense variants in this gene are considered pathogenic (HGMD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22926866, 23621294, 28867141, 30185235, 31036916, 31418850, 32362866, 32139178, 32917465, 33098118, 32712949, 31785789, 27602407)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV000575317.26

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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