NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs) AND Developmental and epileptic encephalopathy, 57

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001533420.1

Allele description [Variation Report for NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs)]

NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs)

Gene:

KCNT2:potassium sodium-activated channel subfamily T member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs)

HGVS:

NC_000001.11:g.196340388_196340395del
NM_001287819.3:c.1731_1738del
NM_001287820.3:c.1581_1588del
NM_198503.5:c.1731_1738delMANE SELECT
NP_001274748.1:p.Phe578fs
NP_001274749.1:p.Phe528fs
NP_940905.2:p.Phe578fs
NC_000001.10:g.196309518_196309525del
NM_198503.5:c.1731_1738delGTTTTATCMANE SELECT
NR_146057.2:n.1753_1760del
NR_146058.2:n.1862_1869del

Protein change:

F528fs

Links:

dbSNP: rs2148151806

NCBI 1000 Genomes Browser:

rs2148151806

Molecular consequence:

NM_001287819.3:c.1731_1738del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287820.3:c.1581_1588del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198503.5:c.1731_1738del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_146057.2:n.1753_1760del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146058.2:n.1862_1869del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Developmental and epileptic encephalopathy, 57
Synonyms:: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57
Identifiers:: MONDO: MONDO:0033366; MedGen: C4540411; OMIM: 617771

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001749314	Institute of Human Genetics, Cologne University	no assertion criteria provided	Likely pathogenic	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001749314

Institute of Human Genetics, Cologne University

no assertion criteria provided

Likely pathogenic

maternal

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, Cologne University, SCV001749314.1

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

Last Updated: Dec 24, 2023

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