NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 22, 2013
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:: RCV000187934.9

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu)]

NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu)

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.2404T>C (p.Phe802Leu)

Other names:

p.F802L:TTC>CTC

HGVS:

NC_000020.11:g.63406859A>G
NG_009004.2:g.70782T>C
NM_001382235.1:c.2458T>C
NM_004518.6:c.2320T>C
NM_172106.3:c.2350T>C
NM_172107.4:c.2404T>CMANE SELECT
NM_172108.5:c.2311T>C
NP_001369164.1:p.Phe820Leu
NP_004509.2:p.Phe774Leu
NP_742104.1:p.Phe784Leu
NP_742105.1:p.Phe802Leu
NP_742106.1:p.Phe771Leu
NC_000020.10:g.62038212A>G
NM_172107.2:c.2404T>C
NM_172109.1:c.*26886T>C

Protein change:

F771L

Links:

dbSNP: rs796052659

NCBI 1000 Genomes Browser:

rs796052659

Molecular consequence:

NM_001382235.1:c.2458T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004518.6:c.2320T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.2350T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.2404T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.2311T>C - 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
SCV000241536	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 22, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000241536

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 22, 2013)

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, SCV000241536.10

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

Description

p.Phe802Leu (TTC>CTC): c.2404 T>C in exon 17 of the KCNQ2 gene (NM_172107.2)The Phe802Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or among the various ethnic groups studied in the 1000 Genomes Project, indicating it is not a common benign variant in these populations. The amino acid substitution is conservative, as both Phenylalanine and Leucine are uncharged, non-polar amino acids. It alters a position in the C-terminal region of the protein that is well conserved through mammals but is not conserved in more distant species. Several in silico algorithms predict it may be damaging to protein structure/function, while another model suggests it may be benign. Therefore, based on the currently available information, it is unclear whether Phe802Leu is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

#	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 8, 2024

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