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NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 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:
RCV000413189.1

Allele description [Variation Report for NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs)]

NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs)

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.1726_1727del (p.Lys576fs)
HGVS:
  • NC_000001.11:g.197142526_197142527del
  • NG_015867.1:g.9169_9170del
  • NM_001206846.2:c.1726_1727del
  • NM_018136.5:c.1726_1727delMANE SELECT
  • NP_001193775.1:p.Lys576fs
  • NP_060606.3:p.Lys576fs
  • NC_000001.10:g.197111656_197111657del
  • NM_018136.4:c.1726_1727delAA
Protein change:
K576fs
Links:
dbSNP: rs1057518268
NCBI 1000 Genomes Browser:
rs1057518268
Molecular consequence:
  • NM_001206846.2:c.1726_1727del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018136.5:c.1726_1727del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491752GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 16, 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, SCV000491752.1

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

Description

The c.1726_1727delAA pathogenic variant in the ASPM gene causes a frameshift starting with codon Lysine 576, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 34 of the new reading frame, denoted p.Lys576GlufsX34. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is interpreted to be a pathogenic variant.

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

Last Updated: Dec 30, 2023