NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) AND Microcephaly 6, primary, autosomal recessive

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 1, 2006
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:: RCV000001892.7

Allele description [Variation Report for NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)]

NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)

Gene:

CENPJ:centromere protein J [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)

HGVS:

NC_000013.11:g.24889374_24889377del
NG_009165.2:g.38574_38577del
NM_018451.5:c.3243_3246delMANE SELECT
NP_060921.3:p.Ser1081fs
NC_000013.10:g.25463509_25463512del
NC_000013.10:g.25463512_25463515del
NM_018451.3:c.3243_3246delTCAG
NR_047594.2:n.3410_3413del

Protein change:

S1081fs

Links:

OMIM: 609279.0003; dbSNP: rs199422203

NCBI 1000 Genomes Browser:

rs199422203

Molecular consequence:

NM_018451.5:c.3243_3246del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_047594.2:n.3410_3413del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Microcephaly 6, primary, autosomal recessive
Identifiers:: MONDO: MONDO:0012029; MedGen: C1842109; Orphanet: 2512; OMIM: 608393

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022048	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000041443	GeneReviews	no classification provided	not provided	unknown	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

SCV000022048

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2006)

germline

literature only

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

SCV000041443

GeneReviews

no classification provided

not provided

unknown

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
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W.

J Hum Genet. 2006;51(9):760-764. doi: 10.1007/s10038-006-0017-1. Epub 2006 Aug 10.

PubMed [citation]

PMID:: 16900296

Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Verloes A, Drunat S, Gressens P, Passemard S.

2009 Sep 1 [updated 2013 Oct 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301772

Details of each submission

From OMIM, SCV000022048.3

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

Description

In affected members of a consanguineous Pakistani family with primary microcephaly-6 (MCPH6; 608393), Gul et al. (2006) identified homozygosity for a 4-bp deletion (3243delTCAG) in exon 11 of the CENPJ gene, resulting in a frameshift and a premature stop codon 19 basepairs downstream. The mutation was not found in 100 unrelated, ethnically matched control chromosomes.

#	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

From GeneReviews, SCV000041443.2

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

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

Last Updated: Oct 20, 2024

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