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NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 17, 2022
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:
RCV002514789.3

Allele description [Variation Report for NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)]

NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)

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.3853_3854del (p.Asp1285fs)
HGVS:
  • NC_000001.11:g.197121932_197121933del
  • NG_015867.1:g.29763_29764del
  • NM_001206846.2:c.3853_3854del
  • NM_018136.5:c.3853_3854delMANE SELECT
  • NP_001193775.1:p.Asp1285fs
  • NP_060606.3:p.Asp1285fs
  • NC_000001.10:g.197091061_197091062del
  • NC_000001.10:g.197091062_197091063del
  • NM_018136.4:c.3853_3854del
  • NM_018136.4:c.3853_3854delGA
Protein change:
D1285fs
Links:
dbSNP: rs587783239
NCBI 1000 Genomes Browser:
rs587783239
Molecular consequence:
  • NM_001206846.2:c.3853_3854del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018136.5:c.3853_3854del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003618870Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 17, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.

Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S.

Clin Genet. 2014 Apr;85(4):353-8. doi: 10.1111/cge.12172. Epub 2013 May 13.

PubMed [citation]
PMID:
23611254

Details of each submission

From Ambry Genetics, SCV003618870.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.3853_3854delGA (p.D1285Sfs*32) alteration, located in exon 16 (coding exon 16) of the ASPM gene, consists of a deletion of 2 nucleotides from position 3853 to 3854, causing a translational frameshift with a predicted alternate stop codon after 32 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the -- allele has an overall frequency of <0.01% (3/251074) total alleles studied. The highest observed frequency was 0.01% (3/34554) of Latino alleles. This variant was identified in one individual with a clinical suspicion of primary microcephaly in conjunction with a second frameshift variant (Tan, 2014). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Sep 29, 2024