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NM_000050.4(ASS1):c.970+5G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 2, 2020
Accession:
VCV000265962.6
Variation ID:
265962
Description:
single nucleotide variant
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NM_054012.4(ASS1):c.970+5G>A

Allele ID
260673
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 130489469 (GRCh38) GRCh38 UCSC
9: 133364856 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.130489469G>A
NC_000009.11:g.133364856G>A
NM_054012.4:c.970+5G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:130489468:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA5283585
dbSNP: rs372128852
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 Apr 2, 2020 RCV000256325.8
Likely pathogenic 1 criteria provided, single submitter Jun 14, 2019 RCV001376552.1
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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
426 463

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Citrullinemia type I
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893798.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Citrullinemia type I
Allele origin: germline
Baylor Genetics
Accession: SCV001163599.1
Submitted: (Sep 27, 2019)
Evidence details
Pathogenic
(Apr 02, 2020)
criteria provided, single submitter
Method: clinical testing
Citrullinuria
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001338489.1
Submitted: (May 13, 2020)
Evidence details
Publications
PubMed (6)
Comment:
Variant summary: ASS1 c.970+5G>A alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Likely pathogenic
(Jun 14, 2019)
criteria provided, single submitter
Method: clinical testing
Citrullinemia
Allele origin: germline
Invitae
Accession: SCV000630067.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change falls in intron 13 of the ASS1 gene. It does not directly change the encoded amino acid sequence of the ASS1 protein, … (more)
Likely pathogenic
(Mar 31, 2017)
no assertion criteria provided
Method: clinical testing
Citrullinemia type I
Allele origin: unknown
Counsyl
Accession: SCV000790673.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (5)
Pathogenic
(Sep 01, 2016)
no assertion criteria provided
Method: literature only
Citrullinemia type I
Allele origin: germline
GeneReviews
Accession: SCV000323100.1
Submitted: (Sep 01, 2016)
Evidence details
Other databases
https://www.ncbi.nlm.nih.gov/boo…

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
Citrullinemia Type I Quinonez SC - 2016 PMID: 20301631
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Molecular genetics of citrullinemia types I and II. Woo HI Clinica chimica acta; international journal of clinical chemistry 2014 PMID: 24508627
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
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
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Häberle J Human genetics 2002 PMID: 11941481
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia. Kobayashi K Human genetics 1995 PMID: 7557970
https://www.ncbi.nlm.nih.gov/books/NBK1458/ - - - -

Text-mined citations for rs372128852...

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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 Jun 14, 2021