NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) AND Mohr syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 20, 2024
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:: RCV003766906.2

Allele description [Variation Report for NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)]

NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)

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.1226G>A (p.Trp409Ter)

HGVS:

NC_000004.12:g.169561520C>T
NG_027982.1:g.56108G>A
NM_001199397.3:c.1226G>AMANE SELECT
NM_001199398.3:c.1226G>A
NM_001199399.3:c.1191+167G>A
NM_001199400.3:c.1226G>A
NM_001374418.1:c.1226G>A
NM_001374419.1:c.1226G>A
NM_001374420.1:c.1175G>A
NM_001374421.1:c.1140+312G>A
NM_001374422.1:c.1226G>A
NM_001374423.1:c.1226G>A
NM_012224.4:c.1226G>A
NP_001186326.1:p.Trp409Ter
NP_001186327.1:p.Trp409Ter
NP_001186329.1:p.Trp409Ter
NP_001361347.1:p.Trp409Ter
NP_001361348.1:p.Trp409Ter
NP_001361349.1:p.Trp392Ter
NP_001361351.1:p.Trp409Ter
NP_001361352.1:p.Trp409Ter
NP_036356.1:p.Trp409Ter
NC_000004.11:g.170482671C>T
NM_001199397.1:c.1226G>A
NM_001199398.1:c.1226G>A
NM_012224.2:c.1226G>A
NR_164630.1:n.1740G>A
NR_164631.1:n.1607G>A
p.Trp409*

Nucleotide change:

1226G-A

Protein change:

W392*

Links:

OMIM: 604588.0014; dbSNP: rs985064686

NCBI 1000 Genomes Browser:

rs985064686

Molecular consequence:

NM_001199399.3:c.1191+167G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001374421.1:c.1140+312G>A - intron variant - [Sequence Ontology: SO:0001627]
NR_164630.1:n.1740G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164631.1:n.1607G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001199397.3:c.1226G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001199398.3:c.1226G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001199400.3:c.1226G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374418.1:c.1226G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374419.1:c.1226G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374420.1:c.1175G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374422.1:c.1226G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374423.1:c.1226G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_012224.4:c.1226G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Mohr syndrome (OFD2)
Synonyms:: OFDS II; ORAL-FACIAL-DIGITAL SYNDROME, TYPE II; Orofaciodigital syndrome 2; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009642; MedGen: C0026363; Orphanet: 2751; OMIM: 252100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004697436	OMIM	no assertion criteria provided	Pathogenic (Feb 20, 2024)	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

SCV004697436

OMIM

no assertion criteria provided

Pathogenic
(Feb 20, 2024)

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

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17.

PubMed [citation]

PMID:: 27530628
PMCID:: PMC5117912

Details of each submission

From OMIM, SCV004697436.2

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

Description

For discussion of the c.1226G-A transition (c.1226G-A, NM_012224.2) in exon 15 of the NEK1 gene that was found in compound heterozygous state in 2 brothers with orofaciodigital syndrome II (OFD2; 252100) by Monroe et al. (2016), see 604588.0013.

#	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: Mar 16, 2024

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