NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) AND Citrullinemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 15, 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:: RCV001290025.15

Allele description [Variation Report for NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)]

NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)

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.836G>A (p.Arg279Gln)

HGVS:

NC_000009.12:g.130480447G>A
NG_011542.1:g.40741G>A
NM_000050.4:c.836G>A
NM_054012.4:c.836G>AMANE SELECT
NP_000041.2:p.Arg279Gln
NP_000041.2:p.Arg279Gln
NP_446464.1:p.Arg279Gln
NC_000009.11:g.133355834G>A
NM_054012.3:c.836G>A
P00966:p.Arg279Gln

Protein change:

R279Q

Links:

UniProtKB: P00966#VAR_016008; dbSNP: rs371265106

NCBI 1000 Genomes Browser:

rs371265106

Molecular consequence:

NM_000050.4:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_054012.4:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000816577	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 15, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 9090528, 16475226, 23099195, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000816577

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 15, 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

Mutations and DNA diagnoses of classical citrullinemia.

Kakinoki H, Kobayashi K, Terazono H, Nagata Y, Saheki T.

Hum Mutat. 1997;9(3):250-9.

PubMed [citation]

PMID:: 9090528

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.

Kleijer WJ, Garritsen VH, van der Sterre ML, Berning C, Häberle J, Huijmans JG.

Prenat Diagn. 2006 Mar;26(3):242-7.

PubMed [citation]

PMID:: 16475226

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000816577.6

#	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 replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 279 of the ASS1 protein (p.Arg279Gln). This variant is present in population databases (rs371265106, gnomAD 0.01%). This missense change has been observed in individual(s) with citrulllinemia type I (PMID: 9090528, 16475226, 23099195; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 92375). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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: Jan 4, 2025

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