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NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) AND Primary autosomal recessive microcephaly 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2009
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:
RCV000020759.1

Allele description

NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter)

Gene:
ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter)
HGVS:
  • NC_000001.11:g.197125190G>A
  • NG_015867.1:g.26505C>T
  • NM_001206846.1:c.2938C>T
  • NM_018136.5:c.2938C>TMANE SELECT
  • NP_001193775.1:p.Arg980Ter
  • NP_060606.3:p.Arg980Ter
  • NC_000001.10:g.197094320G>A
  • NM_018136.4:c.2938C>T
Protein change:
R980*
Links:
dbSNP: rs199422151
NCBI 1000 Genomes Browser:
rs199422151
Molecular consequence:
  • NM_001206846.1:c.2938C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018136.5:c.2938C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Primary autosomal recessive microcephaly 5 (MCPH5)
Identifiers:
MONDO: MONDO:0012106; MedGen: C1837501; Orphanet: 2512; OMIM: 608716

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041338GeneReviews
no assertion criteria provided
pathologic
(Sep 1, 2009) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000041338.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Mar 7, 2021