NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) AND Citrullinemia type I

Germline classification:: Likely pathogenic (3 submissions)
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:: RCV000006703.7

Allele description [Variation Report for NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)]

NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)

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.53C>T (p.Ser18Leu)

HGVS:

NC_000009.12:g.130452281C>T
NG_011542.1:g.12575C>T
NM_000050.4:c.53C>T
NM_054012.4:c.53C>TMANE SELECT
NP_000041.2:p.Ser18Leu
NP_446464.1:p.Ser18Leu
NC_000009.11:g.133327668C>T
P00966:p.Ser18Leu

Protein change:

S18L; SER18LEU

Links:

UniProtKB: P00966#VAR_000682; OMIM: 603470.0011; dbSNP: rs121908643

NCBI 1000 Genomes Browser:

rs121908643

Molecular consequence:

NM_000050.4:c.53C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_054012.4:c.53C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Citrullinemia type I (CTNL1)
Synonyms:: Classic citrullinemia; ASS deficiency; 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
SCV000026894	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1991)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001163216	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026894

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1991)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV001163216

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
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

Additional mutations in argininosuccinate synthetase causing citrullinemia.

Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE.

Mol Biol Med. 1991 Feb;8(1):95-100.

PubMed [citation]

PMID:: 1943692

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000026894.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Kobayashi et al. (1991) demonstrated an S18L mutation due to a C-to-T transition in a CpG dinucleotide of the ASS gene in a case of citrullinemia (215700).

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

From Counsyl, SCV000800552.1

#	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 Baylor Genetics, SCV001163216.1

#	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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800552	Counsyl	flagged submission Reason: Older claim that does not account for recent evidence Notes: None (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 13, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800552

Counsyl

flagged submission

Reason: Older claim that does not account for recent evidence

Notes: None

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jun 13, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Last Updated: Oct 13, 2024

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