NM_001199397.1(NEK1):c.869-2A>G AND Short rib-polydactyly syndrome, Majewski type

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 7, 2011
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:: RCV000023382.4

Allele description

NM_001199397.1(NEK1):c.869-2A>G

Gene:

NEK1:NIMA related kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q33

Genomic location:

Preferred name:

NM_001199397.1(NEK1):c.869-2A>G

HGVS:

NC_000004.12:g.169577081T>C
NG_027982.1:g.40547A>G
NM_001199397.1:c.869-2A>G
NC_000004.11:g.170498232T>C

Nucleotide change:

IVS10, A-G, -2

Links:

OMIM: 604588.0002; dbSNP: rs483352906

NCBI 1000 Genomes Browser:

rs483352906

Molecular consequence:

NM_001199397.1:c.869-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Short rib-polydactyly syndrome, Majewski type (SRTD6)
Synonyms:: POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II; SRPS, TYPE II; Majewski Syndrome; See all synonyms [MedGen]
Identifiers:: MedGen: C0024507; Orphanet: 93269; OMIM: 263520

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044673	OMIM	no assertion criteria provided	Pathogenic (Jan 7, 2011)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044673

OMIM

no assertion criteria provided

Pathogenic
(Jan 7, 2011)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000044673.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an individual with a clinical diagnosis of SRPS type II (SRTD6; 263520) from a consanguineous family of Bedouin origin, Thiel et al. (2011) identified a homozygous splice site mutation in intron 10 (869-2A-G) in the NEK1 gene. The parents and unaffected sibs were heterozygous for the mutation, which was not found in 370 control chromosomes of the same ethnic origin.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 21, 2018

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