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NM_020822.3(KCNT1):c.1008C>T (p.Cys336=) AND Seizure

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 10, 2016
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:
RCV000720171.1

Allele description

NM_020822.3(KCNT1):c.1008C>T (p.Cys336=)

Gene:
KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=)
HGVS:
  • NC_000009.12:g.135759832C>T
  • NG_033070.1:g.62648C>T
  • NM_001272003.2:c.873C>T
  • NM_020822.3:c.1008C>TMANE SELECT
  • NP_001258932.1:p.Cys291=
  • NP_065873.2:p.Cys336=
  • NC_000009.11:g.138651678C>T
  • NM_020822.2:c.1008C>T
Links:
dbSNP: rs540422455
NCBI 1000 Genomes Browser:
rs540422455
Molecular consequence:
  • NM_001272003.2:c.873C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020822.3:c.1008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000851048Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely benign
(Jun 10, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000851048.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Does not segregate with disease in family study (genes with incomplete penetrance);Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 23, 2022