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NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) AND ASS1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 23, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004755716.1

Allele description [Variation Report for NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)]

NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)

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.53C>T (p.Ser18Leu)
HGVS:
  • NC_000009.12:g.130452281C>T
  • NG_011542.1:g.12575C>T
  • NM_000050.4:c.53C>T
  • NM_054012.4:c.53C>TMANE SELECT
  • NP_000041.2:p.Ser18Leu
  • NP_446464.1:p.Ser18Leu
  • NC_000009.11:g.133327668C>T
  • P00966:p.Ser18Leu
Protein change:
S18L; SER18LEU
Links:
UniProtKB: P00966#VAR_000682; OMIM: 603470.0011; dbSNP: rs121908643
NCBI 1000 Genomes Browser:
rs121908643
Molecular consequence:
  • NM_000050.4:c.53C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054012.4:c.53C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ASS1-related disorder
Synonyms:
ASS1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005363534PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(May 23, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005363534.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ASS1 c.53C>T variant is predicted to result in the amino acid substitution p.Ser18Leu. This variant was reported in the compound heterozygous state in individuals with citrullinemia (Kobayashi et al. 1991. PubMed ID: 1943692; Lin et al. 2019. PubMed ID: 31208364). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD and is interpreted as pathogenic or likely pathogenic by most of the submitters in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/6331/). This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024