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NM_018136.5(ASPM):c.3428dup (p.Leu1144fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 2016
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:
RCV000313931.1

Allele description [Variation Report for NM_018136.5(ASPM):c.3428dup (p.Leu1144fs)]

NM_018136.5(ASPM):c.3428dup (p.Leu1144fs)

Gene:
ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_018136.5(ASPM):c.3428dup (p.Leu1144fs)
HGVS:
  • NC_000001.11:g.197122558dup
  • NG_015867.1:g.29137dup
  • NM_001206846.2:c.3428dup
  • NM_018136.5:c.3428dupMANE SELECT
  • NP_001193775.1:p.Leu1144fs
  • NP_060606.3:p.Leu1144fs
  • NC_000001.10:g.197091688dup
  • NM_018136.4:c.3428dupT
Protein change:
L1144fs
Links:
dbSNP: rs886041721
NCBI 1000 Genomes Browser:
rs886041721
Molecular consequence:
  • NM_001206846.2:c.3428dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018136.5:c.3428dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330457GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Apr 25, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330457.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3428dupT pathogenic variant in the ASPM gene causes a frameshift starting with codonLeucine 1144, changes this amino acid to a Valine residue and creates a premature Stop codon atposition 16 of the new reading frame, denoted p.Leu1144ValfsX16. It is predicted to cause loss ofprotein function either through protein truncation or nonsense-mediated mRNA decay.

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

Last Updated: Apr 23, 2022