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NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 2015
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:
RCV000213687.2

Allele description [Variation Report for NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile)]

NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile)

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.6275A>T (p.Asn2092Ile)
HGVS:
  • NC_000001.11:g.197102976T>A
  • NG_015867.1:g.48719A>T
  • NM_001206846.2:c.4066-6812A>T
  • NM_018136.5:c.6275A>TMANE SELECT
  • NP_060606.3:p.Asn2092Ile
  • NC_000001.10:g.197072106T>A
  • NM_018136.4:c.6275A>T
Protein change:
N2092I
Links:
dbSNP: rs144574871
NCBI 1000 Genomes Browser:
rs144574871
Molecular consequence:
  • NM_001206846.2:c.4066-6812A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018136.5:c.6275A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000278797GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 2, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000278797.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The N2092I variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The N2092I variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The N2092I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and Isoleucine is observed at this position in evolution. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024