NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 17, 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:: RCV001037423.5

Allele description

NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)

Genes:

CZ1P-ASNS:CZ1P-ASNS readthrough [Gene]
ASNS:asparagine synthetase (glutamine-hydrolyzing) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

Preferred name:

NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)

HGVS:

NC_000007.14:g.97853143G>A
NG_033870.2:g.80420C>T
NM_001178075.2:c.1330C>T
NM_001178076.2:c.1144C>T
NM_001178077.1:c.1144C>T
NM_001352496.2:c.1393C>T
NM_001673.5:c.1393C>TMANE SELECT
NM_133436.3:c.1393C>T
NM_183356.4:c.1393C>T
NP_001171546.1:p.Arg444Ter
NP_001171547.1:p.Arg382Ter
NP_001171548.1:p.Arg382Ter
NP_001339425.1:p.Arg465Ter
NP_001664.3:p.Arg465Ter
NP_597680.2:p.Arg465Ter
NP_899199.2:p.Arg465Ter
NC_000007.13:g.97482455G>A
NR_147989.1:n.3096C>T

Protein change:

R382*

Links:

dbSNP: rs373774032

NCBI 1000 Genomes Browser:

rs373774032

Molecular consequence:

NR_147989.1:n.3096C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001178075.2:c.1330C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001178076.2:c.1144C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001178077.1:c.1144C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001352496.2:c.1393C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001673.5:c.1393C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133436.3:c.1393C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_183356.4:c.1393C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001200834	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 17, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27422383, 30057589, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001200834

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 17, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

Seidahmed MZ, Salih MA, Abdulbasit OB, Samadi A, Al Hussien K, Miqdad AM, Biary MS, Alazami AM, Alorainy IA, Kabiraj MM, Shaheen R, Alkuraya FS.

BMC Neurol. 2016 Jul 15;16:105. doi: 10.1186/s12883-016-0633-0.

PubMed [citation]

PMID:: 27422383
PMCID:: PMC4947274

Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.

Schleinitz D, Seidel A, Stassart R, Klammt J, Hirrlinger PG, Winkler U, Köhler S, Heiker JT, Schönauer R, Bialek J, Krohn K, Hoffmann K, Kovacs P, Hirrlinger J.

Front Genet. 2018;9:245. doi: 10.3389/fgene.2018.00245.

PubMed [citation]

PMID:: 30057589
PMCID:: PMC6053511

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001200834.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg465*) in the ASNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASNS are known to be pathogenic (PMID: 27422383, 30057589). This variant is present in population databases (rs373774032, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ASNS-related conditions. ClinVar contains an entry for this variant (Variation ID: 836319). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 23, 2024

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Relating variation to medicine