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NM_014920.5(CILK1):c.914A>C (p.Lys305Thr) AND Epilepsy, juvenile myoclonic, susceptibility to, 10

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 11, 2020
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:
RCV000616862.2

Allele description [Variation Report for NM_014920.5(CILK1):c.914A>C (p.Lys305Thr)]

NM_014920.5(CILK1):c.914A>C (p.Lys305Thr)

Gene:
CILK1:ciliogenesis associated kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.1
Genomic location:
Preferred name:
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr)
HGVS:
  • NC_000006.12:g.53013900T>G
  • NG_012159.2:g.52903A>C
  • NM_001375397.1:c.914A>C
  • NM_001375398.1:c.914A>C
  • NM_001375399.1:c.914A>C
  • NM_001375400.1:c.914A>C
  • NM_001375401.1:c.914A>C
  • NM_001375402.1:c.914A>C
  • NM_014920.5:c.914A>CMANE SELECT
  • NM_016513.5:c.914A>C
  • NP_001362326.1:p.Lys305Thr
  • NP_001362327.1:p.Lys305Thr
  • NP_001362328.1:p.Lys305Thr
  • NP_001362329.1:p.Lys305Thr
  • NP_001362330.1:p.Lys305Thr
  • NP_001362331.1:p.Lys305Thr
  • NP_055735.1:p.Lys305Thr
  • NP_057597.2:p.Lys305Thr
  • NP_057597.2:p.Lys305Thr
  • NC_000006.11:g.52878698T>G
  • NM_014920.3:c.914A>C
  • NM_016513.4:c.914A>C
  • NR_164684.1:n.1315A>C
Protein change:
K305T; LYS305THR
Links:
OMIM: 612325.0002; dbSNP: rs765078446
NCBI 1000 Genomes Browser:
rs765078446
Molecular consequence:
  • NM_001375397.1:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375398.1:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375399.1:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375400.1:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375401.1:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375402.1:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014920.5:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016513.5:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164684.1:n.1315A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Epilepsy, juvenile myoclonic, susceptibility to, 10
Identifiers:
MONDO: MONDO:0060671; MedGen: C4693613; OMIM: 617924

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000732893OMIM
no assertion criteria provided
risk factor
(Apr 4, 2018) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV002025631New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jun 11, 2020) 		inheritedclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedinheritedunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Durón RM, Nguyen VH, Wight JE, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, López-Ruiz M, Inoue Y, et al.

N Engl J Med. 2018 Mar 15;378(11):1018-1028. doi: 10.1056/NEJMoa1700175.

PubMed [citation]
PMID:
29539279

Details of each submission

From OMIM, SCV000732893.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 12 affected members of a large multigenerational family of European/Amerind ancestry from Belize (family A) with juvenile myoclonic epilepsy-10 (EJM10; 617924), Bailey et al. (2018) identified a heterozygous c.914A-C transversion in the ICK gene, resulting in a lys305-to-thr (K305T) substitution at a conserved residue at the C terminal. The mutation, which was found by a combination of linkage analysis and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Three unaffected family members also carried the mutation, consistent with incomplete penetrance. The variant was filtered against the 1000 Genomes Project, Exome Sequencing Project, and gnomAD databases; it was found at very low frequency among Asians in gnomAD and was not found in the 1000 Genomes Project database.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From New York Genome Center - CSER-NYCKidSeq, SCV002025631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 7, 2023