NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) AND Microcephaly 1, primary, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000856807.1

Allele description [Variation Report for NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs)]

NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs)

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.8200_8201del (p.Asn2734fs)

HGVS:

NC_000001.11:g.197101054_197101055del
NG_015867.1:g.50644_50645del
NM_001206846.2:c.4066-4887_4066-4886del
NM_018136.5:c.8200_8201delMANE SELECT
NP_060606.3:p.Asn2734fs
NC_000001.10:g.197070184_197070185del
NM_018136.4:c.8200_8201delAA

Protein change:

N2734fs

Links:

dbSNP: rs1558328287

NCBI 1000 Genomes Browser:

rs1558328287

Molecular consequence:

NM_018136.5:c.8200_8201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001206846.2:c.4066-4887_4066-4886del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Microcephaly 1, primary, autosomal recessive
Synonyms:: PREMATURE CHROMOSOME CONDENSATION SYNDROME; PCC SYNDROME; Premature chromosome condensation with microcephaly and mental retardation
Identifiers:: MONDO: MONDO:0009617; MedGen: C1855081; Orphanet: 2512; OMIM: 251200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000999374	Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000999374

Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

unknown

clinical testing

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	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, SCV000999374.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Apr 23, 2022

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