NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs) 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:: RCV000020786.3

Allele description [Variation Report for NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs)]

NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs)

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.6651_6654del (p.Thr2218fs)

HGVS:

NC_000001.11:g.197102598_197102601del
NG_015867.1:g.49095_49098del
NM_001206846.2:c.4066-6436_4066-6433del
NM_018136.5:c.6651_6654delMANE SELECT
NP_060606.3:p.Thr2218fs
NC_000001.10:g.197071728_197071731del
NM_018136.4:c.6651_6654delAACA

Protein change:

T2218fs

Links:

dbSNP: rs199422170

NCBI 1000 Genomes Browser:

rs199422170

Molecular consequence:

NM_018136.5:c.6651_6654del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001206846.2:c.4066-6436_4066-6433del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000041369	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

SCV000041369

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	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301772

Details of each submission

From GeneReviews, SCV000041369.2

#	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: Dec 11, 2022

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