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

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Feb 29, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000078027.25

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 type I (CTNL1)
Synonyms:: ASS DEFICIENCY; Classic citrullinemia; Citrullinemia 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008988; MedGen: C4721769; Orphanet: 247525; OMIM: 215700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486451	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jun 1, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9090528, 23099195, 16475226 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf, Citation Link,
SCV001520228	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 29, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002808243	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 20, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004238479	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 6, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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
not provided	unknown	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

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.

Woo HI, Ki CS, Lee SY, Kim JW, Song J, Jin DK, Park WS, Lee DH, Lee YW, Park HD.

Clin Biochem. 2013 Feb;46(3):209-13. doi: 10.1016/j.clinbiochem.2012.10.008. Epub 2012 Oct 22.

PubMed [citation]

PMID:: 23099195

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000486451.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

From Baylor Genetics, SCV001520228.2

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

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

From Fulgent Genetics, Fulgent Genetics, SCV002808243.1

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

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

From Revvity Omics, Revvity, SCV004238479.1

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

#	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 13, 2025

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