NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs) AND Short-rib thoracic dysplasia 3 with or without polydactyly

Clinical significance:Pathogenic (Last evaluated: Feb 10, 2014)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000023383.2

Allele description [Variation Report for ]

NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)

Gene:
NEK1:NIMA-related kinase 1 [Gene - OMIM]
Variant type:
Duplication
Cytogenetic location:
4q33
Genomic location:
Preferred name:
NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)
HGVS:
  • NC_000004.12:g.169537834dupT
  • NG_027982.1:g.79794dupA
  • NM_001199397.1:c.1640dupA
  • NP_001186326.1:p.Asn547Lysfs
  • NC_000004.11:g.170458985dupT
  • NG_027982.1:g.79794_79795insA
  • NM_001199397.1:c.1640_1641insA
Links:
OMIM: 604588.0003; dbSNP: 483352907
NCBI 1000 Genomes Browser:
rs483352907
Molecular consequence:
  • NM_001199397.1:c.1640_1641insA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
Synonyms:
Asphyxiating thoracic dystrophy 3; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I; SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC; See all synonyms [MedGen]
Identifiers:
MedGen: C2751311; Orphanet: 474; OMIM: 613091
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000044674OMIMPathogenic
(Feb 10, 2014)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

NEK1 mutations cause short-rib polydactyly syndrome type majewski.

Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A.

Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004.

PubMed [citation]
PMID:
21211617
PMCID:
PMC3014367

Details of each submission

From OMIM, SCV000044674.2

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

Description

In an individual with a clinical diagnosis of SRPS type II (SRTD6; 263520) from a nonconsanguineous family of German origin, Thiel et al. (2011) identified a heterozygous 1-bp insertion (1640_1641insA) in the NEK1 gene, resulting in a premature stop codon (Asn547LysfsX2); this individual was also heterozygous for a missense mutation in the DYNC2H1 (11747G-A; 603297.0016), thus indicating biallelic digenic inheritance. No second mutation was found in either gene, and each parent was heterozygous for one of the mutations.

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

Last Updated: Mar 20, 2015