NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 23, 2023
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:: RCV003235663.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys)]

NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys)

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.2332G>A (p.Glu778Lys)

HGVS:

NC_000020.11:g.63406931C>T
NG_009004.2:g.70710G>A
NM_001382235.1:c.2386G>A
NM_004518.6:c.2248G>A
NM_172106.3:c.2278G>A
NM_172107.3:c.2332G>A
NM_172107.4:c.2332G>AMANE SELECT
NM_172108.5:c.2239G>A
NP_001369164.1:p.Glu796Lys
NP_004509.2:p.Glu750Lys
NP_742104.1:p.Glu760Lys
NP_742105.1:p.Glu778Lys
NP_742106.1:p.Glu747Lys
NC_000020.10:g.62038284C>T

Protein change:

E747K

Links:

dbSNP: rs1264858438

NCBI 1000 Genomes Browser:

rs1264858438

Molecular consequence:

NM_001382235.1:c.2386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004518.6:c.2248G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.2278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.2239G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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E146L CDS [African swine fever virus]
E146L CDS [African swine fever virus]
Gene ID:59226981

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003934229	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (May 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003934229

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(May 23, 2023)

germline

clinical testing

Citation Link

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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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003934229.1

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

Description

Variant summary: KCNQ2 c.2332G>A (p.Glu778Lys) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 9e-06 in 221962 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2332G>A in individuals affected with KCNQ2-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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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