U.S. flag

An official website of the United States government

NM_018136.5(ASPM):c.1498del (p.Arg500fs) AND Microcephaly 5, primary, autosomal recessive

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001255777.2

Allele description [Variation Report for NM_018136.5(ASPM):c.1498del (p.Arg500fs)]

NM_018136.5(ASPM):c.1498del (p.Arg500fs)

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.1498del (p.Arg500fs)
HGVS:
  • NC_000001.11:g.197142757del
  • NG_015867.1:g.8941del
  • NM_001206846.2:c.1498del
  • NM_018136.5:c.1498delMANE SELECT
  • NP_001193775.1:p.Arg500fs
  • NP_060606.3:p.Arg500fs
  • NC_000001.10:g.197111887del
  • NM_018136.4:c.1498delA
Protein change:
R500fs
Links:
Molecular consequence:
  • NM_001206846.2:c.1498del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018136.5:c.1498del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Microcephaly 5, primary, autosomal recessive (MCPH5)
Identifiers:
MONDO: MONDO:0012106; MedGen: C1837501; Orphanet: 2512; OMIM: 608716

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432376Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001432376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Jun 23, 2024