NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) AND Citrullinemia

Clinical significance:Pathogenic (Last evaluated: Oct 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001376618.1

Allele description [Variation Report for NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)]

NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)

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.539G>A (p.Ser180Asn)
Other names:
p.S180N:AGC>AAC; NM_000050.4(ASS1):c.539G>A(p.Ser180Asn); NM_054012.3(ASS1):c.539G>A(p.Ser180Asn)
HGVS:
  • NC_000009.12:g.130470877G>A
  • NG_011542.1:g.31171G>A
  • NM_000050.4:c.539G>A
  • NM_054012.4:c.539G>AMANE SELECT
  • NP_000041.2:p.Ser180Asn
  • NP_446464.1:p.Ser180Asn
  • NC_000009.11:g.133346264G>A
  • NM_054012.3:c.539G>A
  • P00966:p.Ser180Asn
Protein change:
S180N; SER180ASN
Links:
UniProtKB: P00966#VAR_000686; OMIM: 603470.0006; dbSNP: rs121908638
NCBI 1000 Genomes Browser:
rs121908638
Molecular consequence:
  • NM_000050.4:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054012.4:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Citrullinemia (CTNL1)
Identifiers:
MONDO: MONDO:0015991; MedGen: C0175683

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000630060Invitaecriteria provided, single submitter
Pathogenic
(Oct 19, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.

Rhee Y, Heaton T, Keegan C, Ahmad A.

Clin Pract. 2013 Jan 25;3(1):e2. doi: 10.4081/cp.2013.e2.

PubMed [citation]
PMID:
24765495
PMCID:
PMC3981224

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Am J Med Genet A. 2008 Nov 15;146A(22):2885-90. doi: 10.1002/ajmg.a.32527. Erratum in: Am J Med Genet A. 2010 Apr;152A(4):1061.

PubMed [citation]
PMID:
18925679
PMCID:
PMC2597641
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000630060.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces serine with asparagine at codon 180 of the ASS1 protein (p.Ser180Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs121908638, ExAC 0.001%). This variant has been reported in individuals affected with citrullinemia type I, including symptoms of hyperammonemia and markedly elevated plasma citrulline (PMID: 2358466, 24765495, 18925679, Invitae). ClinVar contains an entry for this variant (Variation ID: 6326). A previous study has shown that argininosuccinate synthetase activity is not detectable in patient fibroblasts (PMID: 2358466). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 7, 2021

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