NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) AND Seizures, benign familial neonatal, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 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:: RCV000578391.6

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)]

NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)

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.1622G>C (p.Arg541Thr)

HGVS:

NC_000020.11:g.63414097C>G
NG_009004.2:g.63544G>C
NM_004518.6:c.1538G>C
NM_172106.3:c.1568G>C
NM_172107.4:c.1622G>CMANE SELECT
NM_172108.5:c.1529G>C
NP_004509.2:p.Arg513Thr
NP_742104.1:p.Arg523Thr
NP_742105.1:p.Arg541Thr
NP_742106.1:p.Arg510Thr
NC_000020.10:g.62045450C>G

Protein change:

R510T

Links:

dbSNP: rs1555853970

NCBI 1000 Genomes Browser:

rs1555853970

Molecular consequence:

NM_004518.6:c.1538G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.1568G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.1622G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.1529G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Seizures, benign familial neonatal, 1
Synonyms:: Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:: MONDO: MONDO:0007365; MedGen: C3149074; Orphanet: 1949; OMIM: 121200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680270	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Likely pathogenic (Dec 9, 2017)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680270

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Likely pathogenic
(Dec 9, 2017)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680270.1

#	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	de novo	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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