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NM_018136.5(ASPM):c.9159del (p.Lys3053fs) AND Microcephaly 5, primary, autosomal recessive

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 1, 2002
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:
RCV000005247.5

Allele description [Variation Report for NM_018136.5(ASPM):c.9159del (p.Lys3053fs)]

NM_018136.5(ASPM):c.9159del (p.Lys3053fs)

Gene:
ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_018136.5(ASPM):c.9159del (p.Lys3053fs)
HGVS:
  • NC_000001.11:g.197093189del
  • NG_015867.1:g.58508del
  • NM_001206846.2:c.4404del
  • NM_018136.5:c.9159delMANE SELECT
  • NP_001193775.1:p.Lys1468fs
  • NP_060606.3:p.Lys3053fs
  • NC_000001.10:g.197062319del
  • NM_018136.4:c.9159delA
Protein change:
K1468fs
Links:
OMIM: 605481.0004; dbSNP: rs199422184
NCBI 1000 Genomes Browser:
rs199422184
Molecular consequence:
  • NM_001206846.2:c.4404del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018136.5:c.9159del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Microcephaly 5, primary, autosomal recessive (MCPH5)
Identifiers:
MONDO: MONDO:0012106; MedGen: C1837501; Orphanet: 2512; OMIM: 608716

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025425OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2002) 		germlineliterature only

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

SCV000041396GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

ASPM is a major determinant of cerebral cortical size.

Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG.

Nat Genet. 2002 Oct;32(2):316-20. Epub 2002 Sep 23.

PubMed [citation]
PMID:
12355089

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, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301772

Details of each submission

From OMIM, SCV000025425.2

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

Description

In a consanguineous Pakistani family with primary microcephaly-5 (MCPH5; 608716), Bond et al. (2002) found a 1-bp deletion, 9159delA, in exon 21 of the ASPM gene, causing a frameshift leading to premature termination 4 codons downstream.

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

From GeneReviews, SCV000041396.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 11, 2022