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NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del) AND Microcephaly 5, primary, autosomal recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003455560.1

Allele description [Variation Report for NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)]

NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)

Gene:
ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)
HGVS:
  • NC_000001.11:g.197101358AAT[2]
  • NG_015867.1:g.50329ATT[2]
  • NM_001206846.2:c.4066-5202ATT[2]
  • NM_018136.5:c.7885ATT[2]MANE SELECT
  • NP_060606.3:p.Ile2631del
  • NC_000001.10:g.197070488AAT[2]
  • NC_000001.10:g.197070488_197070490del
  • NM_018136.4:c.7891_7893delATT
Protein change:
I2631del
Molecular consequence:
  • NM_018136.5:c.7885ATT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001206846.2:c.4066-5202ATT[2] - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004177588Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV004177588.1

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

Last Updated: Sep 29, 2024