NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 27, 2014
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:: RCV000210594.4

Allele description [Variation Report for NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)]

NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)

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.646G>A (p.Glu216Lys)

HGVS:

NC_000001.11:g.197143606C>T
NG_015867.1:g.8089G>A
NM_001206846.2:c.646G>A
NM_018136.5:c.646G>AMANE SELECT
NP_001193775.1:p.Glu216Lys
NP_060606.3:p.Glu216Lys
NC_000001.10:g.197112736C>T
NM_018136.4:c.646G>A

Protein change:

E216K

Links:

dbSNP: rs151050191

NCBI 1000 Genomes Browser:

rs151050191

Molecular consequence:

NM_001206846.2:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018136.5:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000262995	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Uncertain significance (Mar 27, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000262995

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Uncertain significance
(Mar 27, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000262995.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

There is insufficient or conflicting evidence for classification of this alteration.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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