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NM_004519.4(KCNQ3):c.*717CA[21] AND Benign neonatal seizures

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV000389722.5

Allele description [Variation Report for NM_004519.4(KCNQ3):c.*717CA[21]]

NM_004519.4(KCNQ3):c.*717CA[21]

Gene:
KCNQ3:potassium voltage-gated channel subfamily Q member 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8q24.22
Genomic location:
Preferred name:
NM_004519.4(KCNQ3):c.*717CA[21]
HGVS:
  • NC_000008.11:g.132128509GT[21]
  • NG_008854.2:g.357213CA[21]
  • NM_001204824.2:c.*717CA[21]
  • NM_004519.4:c.*717CA[21]MANE SELECT
  • NC_000008.10:g.133140756GT[21]
  • NM_004519.3:c.*751_*754dupCACA
Links:
dbSNP: rs35230760
NCBI 1000 Genomes Browser:
rs35230760
Molecular consequence:
  • NM_001204824.2:c.*717CA[21] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004519.4:c.*717CA[21] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Benign neonatal seizures
Synonyms:
Benign familial neonatal seizures; Convulsions benign familial neonatal dominant form; Autosomal dominant form of benign neonatal seizures; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016027; MedGen: C0220669; Orphanet: 1949; OMIM: PS121200

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000471870Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000471870.2

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

Last Updated: Apr 15, 2024