NM_018136.5(ASPM):c.8043dup (p.Arg2682fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 2016
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:: RCV000217588.2

Allele description [Variation Report for NM_018136.5(ASPM):c.8043dup (p.Arg2682fs)]

NM_018136.5(ASPM):c.8043dup (p.Arg2682fs)

Gene:

ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_018136.5(ASPM):c.8043dup (p.Arg2682fs)

HGVS:

NC_000001.11:g.197101208dup
NG_015867.1:g.50487dup
NM_001206846.2:c.4066-5044dup
NM_018136.5:c.8043dupMANE SELECT
NP_060606.3:p.Arg2682fs
NC_000001.10:g.197070338dup
NM_018136.4:c.8043dupA

Protein change:

R2682fs

Links:

dbSNP: rs876660960

NCBI 1000 Genomes Browser:

rs876660960

Molecular consequence:

NM_018136.5:c.8043dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001206846.2:c.4066-5044dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000278801	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 15, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000278801

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 15, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000278801.6

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

Description

The c.8043dupA mutation in the ASPM gene causes a frameshift starting with codon Arginine 2682, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Arg2682ThrfsX26. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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

Last Updated: Apr 23, 2022

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