NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) AND not provided

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

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jul 10, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000185789.32

Allele description

NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)

Gene:

ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)

Other names:

p.G390R:GGG>AGG

HGVS:

NC_000009.12:g.130499545G>A
NG_011542.1:g.59839G>A
NM_000050.4:c.1168G>A
NM_054012.4:c.1168G>AMANE SELECT
NP_000041.2:p.Gly390Arg
NP_000041.2:p.Gly390Arg
NP_446464.1:p.Gly390Arg
NC_000009.11:g.133374932G>A
NM_054012.3:c.1168G>A
NM_054012.4:c.1168G>A
P00966:p.Gly390Arg

Protein change:

G390R; GLY390ARG

Links:

UniProtKB: P00966#VAR_000694; OMIM: 603470.0009; dbSNP: rs121908641

NCBI 1000 Genomes Browser:

rs121908641

Molecular consequence:

NM_000050.4:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_054012.4:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000109857	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Pathogenic (Apr 20, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19006241, 2358466 Citation Link,
SCV000238725	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 10, 2021)	germline	clinical testing	Citation Link,
SCV001248850	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Dec 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109857

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Pathogenic
(Apr 20, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000238725

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jul 10, 2021)

germline

clinical testing

Citation Link,

SCV001248850

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Dec 1, 2019)

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	4	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	14	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

Engel K, Höhne W, Häberle J.

Hum Mutat. 2009 Mar;30(3):300-7. doi: 10.1002/humu.20847. Review.

PubMed [citation]

PMID:: 19006241

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

Kobayashi K, Jackson MJ, Tick DB, O'Brien WE, Beaudet AL.

J Biol Chem. 1990 Jul 5;265(19):11361-7.

PubMed [citation]

PMID:: 2358466

Details of each submission

From Eurofins Ntd Llc (ga), SCV000109857.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	14	not provided	not provided	clinical testing	PubMed (2)

#	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		14	not provided	not provided	not provided

From GeneDx, SCV000238725.12

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

Description

Published functional studies demonstrate less than 2% of wild type argininosuccinate synthetase activity (Berning et al., 2008); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 31469252, 31980526, 25433810, 7557970, 11941481, 30848473, 11708871, 8792870, 19006241, 12815590, 23430935, 19358837, 2358466, 28741715, 16421053, 28132756, 27287393, 22975760, 25087612, 18473344, 16475226)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001248850.22

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

#	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		4	not provided	not provided	not provided

Last Updated: Jul 7, 2024

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