NM_172107.4(KCNQ2):c.1820del (p.Gly607fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 9, 2017
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:: RCV000597770.4

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1820del (p.Gly607fs)]

NM_172107.4(KCNQ2):c.1820del (p.Gly607fs)

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.1820del (p.Gly607fs)

HGVS:

NC_000020.11:g.63408482del
NG_009004.2:g.69161del
NM_004518.6:c.1736del
NM_172106.3:c.1766del
NM_172107.4:c.1820delMANE SELECT
NM_172108.5:c.1727del
NP_004509.2:p.Gly579fs
NP_742104.1:p.Gly589fs
NP_742105.1:p.Gly607fs
NP_742106.1:p.Gly576fs
NC_000020.10:g.62039835del

Protein change:

G576fs

Links:

dbSNP: rs1555851513

NCBI 1000 Genomes Browser:

rs1555851513

Molecular consequence:

NM_004518.6:c.1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172106.3:c.1766del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172107.4:c.1820del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172108.5:c.1727del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000705383	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Feb 9, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000705383

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Feb 9, 2017)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000705383.2

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

Last Updated: Apr 1, 2023

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