NM_018136.4(ASPM):c.577C>T (p.Gln193Ter) AND Primary autosomal recessive microcephaly 5

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Pathogenic(1) (Last evaluated: Jan 9, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000020782.2

Allele description

NM_018136.4(ASPM):c.577C>T (p.Gln193Ter)

Gene:
ASPM:abnormal spindle microtubule assembly [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_018136.4(ASPM):c.577C>T (p.Gln193Ter)
HGVS:
  • NC_000001.11:g.197143675G>A
  • NG_015867.1:g.8020C>T
  • NM_018136.4:c.577C>T
  • NP_060606.3:p.Gln193Ter
  • NC_000001.10:g.197112805G>A
Protein change:
Q193*
Links:
dbSNP: rs199422134
NCBI 1000 Genomes Browser:
rs199422134
Molecular consequence:
  • NM_018136.4:c.577C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Primary autosomal recessive microcephaly 5 (MCPH5)
Identifiers:
MedGen: C1837501; Orphanet: 2512; OMIM: 608716
Age of onset:
Antenatal
Prevalence:
1-9 / 1 000 000 2512

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000041364GeneReviewsno assertion criteria providedpathologic
(Sep 1, 2009)
not providedcuration

SCV000246595Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely pathogenic
(Jan 9, 2015)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneReviews, SCV000041364.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV000246595.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 29, 2017