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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003513830	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 12, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 14680976, 28132756, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003513830

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 12, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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