NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) AND Citrullinemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 29, 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:: RCV002228610.3

Allele description [Variation Report for NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)]

NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)

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.1030C>T (p.Arg344Ter)

HGVS:

NC_000009.12:g.130494926C>T
NG_011542.1:g.55220C>T
NM_000050.4:c.1030C>T
NM_054012.4:c.1030C>TMANE SELECT
NP_000041.2:p.Arg344Ter
NP_446464.1:p.Arg344Ter
NC_000009.11:g.133370313C>T

Protein change:

R344*

Links:

dbSNP: rs786204537

NCBI 1000 Genomes Browser:

rs786204537

Molecular consequence:

NM_000050.4:c.1030C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_054012.4:c.1030C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Citrullinemia
Synonyms:: Citrullinuria
Identifiers:: MONDO: MONDO:0015991; MedGen: C0175683; Human Phenotype Ontology: HP:0032397

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000954094	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 29, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18473344, 19006241, 28111830, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000954094

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 29, 2023)

germline

clinical testing

PubMed (4)
[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

Investigation of citrullinemia type I variants by in vitro expression studies.

Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, Höhne W, Koch HG, Rolinski B, Gempel K, Häberle J.

Hum Mutat. 2008 Oct;29(10):1222-7. doi: 10.1002/humu.20784.

PubMed [citation]

PMID:: 18473344

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

Engel K, Höhne W, Häberle J.

Hum Mutat. 2009 Mar;30(3):300-7. doi: 10.1002/humu.20847. Review.

PubMed [citation]

PMID:: 19006241

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000954094.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Arg344*) in the ASS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASS1 are known to be pathogenic (PMID: 18473344, 19006241). This variant is present in population databases (rs786204537, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with citrullinemia (PMID: 28111830). ClinVar contains an entry for this variant (Variation ID: 188885). 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: May 12, 2024

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