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NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jul 4, 2021)
Last evaluated:
Mar 1, 2021
Accession:
VCV000006327.8
Variation ID:
6327
Description:
single nucleotide variant
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NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)

Allele ID
21366
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 130489464 (GRCh38) GRCh38 UCSC
9: 133364851 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.133364851G>A
NC_000009.12:g.130489464G>A
NG_011542.1:g.49758G>A
... more HGVS
Protein change
G324S
Other names
-
Canonical SPDI
NC_000009.12:130489463:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
Links
ClinGen: CA253832
OMIM: 603470.0007
dbSNP: rs121908639
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 5 criteria provided, multiple submitters, no conflicts Jan 31, 2019 RCV000006699.11
Pathogenic 1 criteria provided, single submitter Sep 28, 2020 RCV001376631.1
Pathogenic 1 criteria provided, single submitter Mar 1, 2021 RCV001531743.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ASS1 - - GRCh38
GRCh37
435 472

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 19, 2014)
criteria provided, single submitter
Method: literature only
Citrullinemia type I
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220532.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (6)
Likely pathogenic
(Jan 17, 2016)
criteria provided, single submitter
Method: clinical testing
Citrullinemia
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000593461.1
Submitted: (Jul 05, 2017)
Evidence details
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Citrullinemia type I
Allele origin: germline
Baylor Genetics
Accession: SCV001163598.1
Submitted: (Sep 27, 2019)
Evidence details
Pathogenic
(Jan 31, 2019)
criteria provided, single submitter
Method: clinical testing
Citrullinemia type I
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001368808.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PM3,PP3,PP4.
Pathogenic
(Sep 28, 2020)
criteria provided, single submitter
Method: clinical testing
Citrullinemia
Allele origin: germline
Invitae
Accession: SCV000630068.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change replaces glycine with serine at codon 324 of the ASS1 protein (p.Gly324Ser). The glycine residue is moderately conserved and there is a … (more)
Pathogenic
(Mar 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001747007.1
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Apr 04, 2013)
no assertion criteria provided
Method: literature only
CITRULLINEMIA, CLASSIC
Allele origin: germline
OMIM
Accession: SCV000026890.2
Submitted: (Apr 04, 2013)
Evidence details
Publications
Kobayashi, K., Jackson, M. J.,  (more...)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Investigation of citrullinemia type I variants by in vitro expression studies. Berning C Human mutation 2008 PMID: 18473344
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. Kleijer WJ Prenatal diagnosis 2006 PMID: 16475226
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Häberle J Molecular genetics and metabolism 2003 PMID: 14680976
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Gao HZ Human mutation 2003 PMID: 12815590
The first successful prenatal diagnosis on a Korean family with citrullinemia. Hong KM Molecules and cells 2000 PMID: 11211875
Mutation analysis of Korean patients with citrullinemia. Hong KM Molecules and cells 2000 PMID: 10987146
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. Kobayashi K The Journal of biological chemistry 1990 PMID: 2358466
Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. Characterization of nine mutant alleles causing citrullinemia. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A201-only, 1989. - - - -

Text-mined citations for rs121908639...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021