NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) AND Seizures

Clinical significance:Likely benign (Last evaluated: Feb 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718151.1

Allele description [Variation Report for NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys)]

NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys)

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.3632C>G (p.Ser1211Cys)
HGVS:
  • NC_000009.12:g.135792085C>G
  • NG_033070.1:g.94901C>G
  • NM_001272003.2:c.3560C>G
  • NM_020822.3:c.3632C>GMANE SELECT
  • NP_001258932.1:p.Ser1187Cys
  • NP_065873.2:p.Ser1211Cys
  • NC_000009.11:g.138683931C>G
  • NM_020822.2:c.3632C>G
Protein change:
S1187C
Links:
dbSNP: rs752729337
NCBI 1000 Genomes Browser:
rs752729337
Molecular consequence:
  • NM_001272003.2:c.3560C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849013Ambry Geneticscriteria provided, single submitter
Likely benign
(Feb 15, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849013.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Does not segregate with disease in family study (genes with incomplete penetrance);Other data supporting benign classification;Subpopulation frequency in support of benign classification

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

Last Updated: Dec 4, 2021

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