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NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000174154.16

Allele description [Variation Report for NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)]

NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)

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.889G>A (p.Glu297Lys)
HGVS:
  • NC_000009.12:g.135759713G>A
  • NG_033070.1:g.62529G>A
  • NM_001272003.2:c.754G>A
  • NM_020822.3:c.889G>AMANE SELECT
  • NP_001258932.1:p.Glu252Lys
  • NP_065873.2:p.Glu297Lys
  • NC_000009.11:g.138651559G>A
  • NM_020822.2:c.889G>A
Protein change:
E252K
Links:
dbSNP: rs146070496
NCBI 1000 Genomes Browser:
rs146070496
Molecular consequence:
  • NM_001272003.2:c.754G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000225402Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Jun 10, 2014)
germlineclinical testing

Citation Link,

SCV004010894CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Uncertain significance
(Jun 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000225402.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004010894.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024