U.S. flag

An official website of the United States government

NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs) AND Microcephaly 5, primary, autosomal recessive

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000020802.3

Allele description [Variation Report for NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs)]

NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs)

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.8131_8132del (p.Lys2711fs)
HGVS:
  • NC_000001.11:g.197101120_197101121del
  • NG_015867.1:g.50575_50576del
  • NM_001206846.2:c.4066-4956_4066-4955del
  • NM_018136.5:c.8131_8132delMANE SELECT
  • NP_060606.3:p.Lys2711fs
  • NC_000001.10:g.197070250_197070251del
  • NM_018136.4:c.8130_8131delAA
Protein change:
K2711fs
Links:
dbSNP: rs199422176
NCBI 1000 Genomes Browser:
rs199422176
Molecular consequence:
  • NM_018136.5:c.8131_8132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001206846.2:c.4066-4956_4066-4955del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000041387GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY..

Verloes A, Drunat S, Gressens P, Passemard S.

2009 Sep 1 [updated 2013 Oct 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301772

Details of each submission

From GeneReviews, SCV000041387.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 11, 2022