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NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter) AND Amyotrophic lateral sclerosis, susceptibility to, 24

Germline classification:
risk factor (1 submission)
Last evaluated:
Feb 28, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000585741.1

Allele description [Variation Report for NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)]

NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)

Gene:
NEK1:NIMA related kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q33
Genomic location:
Preferred name:
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)
HGVS:
  • NC_000004.12:g.169537826G>A
  • NG_027982.1:g.79802C>T
  • NM_001199397.3:c.1648C>TMANE SELECT
  • NM_001199398.3:c.1516C>T
  • NM_001199399.3:c.1441C>T
  • NM_001199400.3:c.1516C>T
  • NM_001374418.1:c.1648C>T
  • NM_001374419.1:c.1648C>T
  • NM_001374420.1:c.1597C>T
  • NM_001374421.1:c.1522C>T
  • NM_012224.4:c.1648C>T
  • NP_001186326.1:p.Arg550Ter
  • NP_001186327.1:p.Arg506Ter
  • NP_001186328.1:p.Arg481Ter
  • NP_001186329.1:p.Arg506Ter
  • NP_001361347.1:p.Arg550Ter
  • NP_001361348.1:p.Arg550Ter
  • NP_001361349.1:p.Arg533Ter
  • NP_001361350.1:p.Arg508Ter
  • NP_036356.1:p.Arg550Ter
  • NC_000004.11:g.170458977G>A
  • NM_001199397.1:c.1648C>T
  • NR_164630.1:n.2194C>T
Protein change:
R481*; ARG550TER
Links:
OMIM: 604588.0008; dbSNP: rs371575563
NCBI 1000 Genomes Browser:
rs371575563
Molecular consequence:
  • NR_164630.1:n.2194C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001199397.3:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001199398.3:c.1516C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001199399.3:c.1441C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001199400.3:c.1516C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374418.1:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374419.1:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374420.1:c.1597C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374421.1:c.1522C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012224.4:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Amyotrophic lateral sclerosis, susceptibility to, 24
Identifiers:
MONDO: MONDO:0054750; MedGen: C4693523; OMIM: 617892

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000693687OMIM
no assertion criteria provided
risk factor
(Feb 28, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, et al.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

PubMed [citation]
PMID:
27455347
PMCID:
PMC5560030

Details of each submission

From OMIM, SCV000693687.1

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

Description

In a proband with amyotrophic lateral sclerosis (ALS24; 617892) and his affected mother, Kenna et al. (2016) identified an arg550-to-ter (R550X) mutation in the NEK1 gene.

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

Last Updated: Sep 29, 2024