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NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 10, 2020
Accession:
VCV000006324.5
Variation ID:
6324
Description:
single nucleotide variant
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NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)

Allele ID
21363
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 130452268 (GRCh38) GRCh38 UCSC
9: 133327655 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.133327655G>A
NC_000009.12:g.130452268G>A
NG_011542.1:g.12562G>A
... more HGVS
Protein change
G14S
Other names
-
Canonical SPDI
NC_000009.12:130452267:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
ClinGen: CA253829
UniProtKB: P00966#VAR_000681
OMIM: 603470.0004
dbSNP: rs121908636
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 3 criteria provided, multiple submitters, no conflicts Aug 7, 2018 RCV000006696.7
Likely pathogenic 1 criteria provided, single submitter Feb 10, 2020 RCV001376548.1
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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
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Citrullinemia type I
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845427.1
Submitted: (Aug 07, 2018)
Evidence details
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Citrullinemia type I
Allele origin: germline
Baylor Genetics
Accession: SCV001163215.1
Submitted: (Sep 27, 2019)
Evidence details
Likely pathogenic
(Feb 10, 2020)
criteria provided, single submitter
Method: clinical testing
Citrullinemia
Allele origin: germline
Invitae
Accession: SCV001208612.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glycine with serine at codon 14 of the ASS1 protein (p.Gly14Ser). The glycine residue is highly conserved and there is a … (more)
Pathogenic
(Apr 04, 2013)
no assertion criteria provided
Method: literature only
CITRULLINEMIA, CLASSIC
Allele origin: germline
OMIM
Accession: SCV000026887.2
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
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. Diez-Fernandez C Human mutation 2017 PMID: 28111830
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. Diez-Fernandez C Journal of medical genetics 2016 PMID: 27287393
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations. Lee BH Molecular genetics and metabolism 2013 PMID: 23246278
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Häberle J Molecular genetics and metabolism 2003 PMID: 14680976
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 rs121908636...

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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