NM_172107.4(KCNQ2):c.2401del (p.Ser801fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 2, 2015
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:: RCV000487374.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2401del (p.Ser801fs)]

NM_172107.4(KCNQ2):c.2401del (p.Ser801fs)

Gene:

KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_172107.4(KCNQ2):c.2401del (p.Ser801fs)

HGVS:

NC_000020.11:g.63406863del
NG_009004.2:g.70779del
NM_004518.6:c.2317del
NM_172106.3:c.2347del
NM_172107.4:c.2401delMANE SELECT
NM_172108.5:c.2308del
NP_004509.2:p.Ser773fs
NP_742104.1:p.Ser783fs
NP_742105.1:p.Ser801fs
NP_742106.1:p.Ser770fs
NC_000020.10:g.62038216del
NM_172107.2:c.2401delT

Protein change:

S770fs

Links:

dbSNP: rs1064793852

NCBI 1000 Genomes Browser:

rs1064793852

Molecular consequence:

NM_004518.6:c.2317del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172106.3:c.2347del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172107.4:c.2401del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172108.5:c.2308del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000567184	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 2, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567184

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 2, 2015)

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, SCV000567184.4

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

Description

The c.2401delT deletion in the KCNQ2 gene causes a frameshift starting with codon Serine 801, changesthis amino acid to a Proline residue and creates a premature Stop codon at position 129 of the new readingframe, denoted p.Ser801ProfsX129. This results in the replacement of the last 72 amino acids of the KCNQ2protein with 128 incorrect amino acids. Although this variant has not been previously reported to ourknowledge, we consider it to be pathogenic.

#	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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