NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 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:: RCV001773613.3

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg)]

NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg)

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.2079C>G (p.Ser693Arg)

HGVS:

NC_000020.11:g.63407184G>C
NG_009004.2:g.70457C>G
NM_001382235.1:c.2133C>G
NM_004518.6:c.1995C>G
NM_172106.3:c.2025C>G
NM_172107.4:c.2079C>GMANE SELECT
NM_172108.5:c.1986C>G
NP_001369164.1:p.Ser711Arg
NP_004509.2:p.Ser665Arg
NP_742104.1:p.Ser675Arg
NP_742105.1:p.Ser693Arg
NP_742106.1:p.Ser662Arg
NC_000020.10:g.62038537G>C
NM_172107.2:c.2079C>G

Protein change:

S662R

Links:

dbSNP: rs2079971597

NCBI 1000 Genomes Browser:

rs2079971597

Molecular consequence:

NM_001382235.1:c.2133C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004518.6:c.1995C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.2025C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.1986C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002001892	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 10, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002001892

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 10, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002001892.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This substitution is predicted to be within the C-terminal cytoplasmic domain; Has not been previously published as pathogenic or benign to our knowledge

#	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: Sep 29, 2024

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