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NM_018136.5(ASPM):c.6732del (p.Tyr2245fs) AND Microcephaly 5, primary, autosomal recessive

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000020787.3

Allele description [Variation Report for NM_018136.5(ASPM):c.6732del (p.Tyr2245fs)]

NM_018136.5(ASPM):c.6732del (p.Tyr2245fs)

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.6732del (p.Tyr2245fs)
HGVS:
  • NC_000001.11:g.197102519del
  • NG_015867.1:g.49176del
  • NM_001206846.2:c.4066-6355del
  • NM_018136.5:c.6732delMANE SELECT
  • NP_060606.3:p.Tyr2245fs
  • NC_000001.10:g.197071649del
  • NM_018136.4:c.6732delA
Protein change:
Y2245fs
Links:
dbSNP: rs199422171
NCBI 1000 Genomes Browser:
rs199422171
Molecular consequence:
  • NM_018136.5:c.6732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001206846.2:c.4066-6355del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041370GeneReviews
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

Citations

PubMed

Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.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 GeneReviews, SCV000041370.2

#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