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NM_054012.4(ASS1):c.773+49C>T AND Citrullinemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 12, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002521863.3

Allele description [Variation Report for NM_054012.4(ASS1):c.773+49C>T]

NM_054012.4(ASS1):c.773+49C>T

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.773+49C>T
HGVS:
  • NC_000009.12:g.130479849C>T
  • NG_011542.1:g.40143C>T
  • NM_000050.4:c.773+49C>T
  • NM_054012.4:c.773+49C>TMANE SELECT
  • NC_000009.11:g.133355236C>T
Links:
dbSNP: rs763389916
NCBI 1000 Genomes Browser:
rs763389916
Molecular consequence:
  • NM_000050.4:c.773+49C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_054012.4:c.773+49C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Citrullinemia
Identifiers:
MONDO: MONDO:0015991; MedGen: C0175683; OMIM: PS215700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003513830Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 12, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG.

Mol Genet Metab. 2003 Nov;80(3):302-6.

PubMed [citation]
PMID:
14680976

Identification of three novel mutations in fourteen patients with citrullinemia type 1.

Kose E, Unal O, Bulbul S, Gunduz M, Häberle J, Arslan N.

Clin Biochem. 2017 Aug;50(12):686-689. doi: 10.1016/j.clinbiochem.2017.01.011. Epub 2017 Jan 27.

PubMed [citation]
PMID:
28132756
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003513830.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change falls in intron 11 of the ASS1 gene. It does not directly change the encoded amino acid sequence of the ASS1 protein. This variant is present in population databases (rs763389916, gnomAD 0.02%). This variant has been observed in individuals with citrullinemia (PMID: 14680976, 28132756). ClinVar contains an entry for this variant (Variation ID: 265958). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: Sep 29, 2024