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NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln) AND Microcephaly 5, primary, autosomal recessive

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 5, 2017
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:
RCV000194024.2

Allele description [Variation Report for NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln)]

NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln)

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.8558G>A (p.Arg2853Gln)
HGVS:
  • NC_000001.11:g.197100693C>T
  • NG_015867.1:g.51002G>A
  • NM_001206846.2:c.4066-4529G>A
  • NM_018136.5:c.8558G>AMANE SELECT
  • NP_060606.3:p.Arg2853Gln
  • NC_000001.10:g.197069823C>T
  • NM_018136.4:c.8558G>A
Protein change:
R2853Q
Links:
dbSNP: rs148245202
NCBI 1000 Genomes Browser:
rs148245202
Molecular consequence:
  • NM_001206846.2:c.4066-4529G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018136.5:c.8558G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000249567HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha
criteria provided, single submitter

(HA_assertions_20161101)
Likely benign
(Dec 5, 2017)
paternalresearch

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknown1not providednot provided1not providedresearch

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha, SCV000249567.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024