NM_054012.4(ASS1):c.961G>A (p.Val321Met) AND Citrullinemia type I

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 2018
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:: RCV000672058.9

Allele description [Variation Report for NM_054012.4(ASS1):c.961G>A (p.Val321Met)]

NM_054012.4(ASS1):c.961G>A (p.Val321Met)

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.961G>A (p.Val321Met)

HGVS:

NC_000009.12:g.130489455G>A
NG_011542.1:g.49749G>A
NM_000050.4:c.961G>A
NM_054012.4:c.961G>AMANE SELECT
NP_000041.2:p.Val321Met
NP_000041.2:p.Val321Met
NP_446464.1:p.Val321Met
NC_000009.11:g.133364842G>A

Protein change:

V321M

Links:

dbSNP: rs727503813

NCBI 1000 Genomes Browser:

rs727503813

Molecular consequence:

NM_000050.4:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_054012.4:c.961G>A - 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
SCV000797117	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jan 12, 2018)	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

SCV000797117

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Jan 12, 2018)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

Diez-Fernandez C, Rüfenacht V, Häberle J.

Hum Mutat. 2017 May;38(5):471-484. doi: 10.1002/humu.23184. Epub 2017 Feb 15. Review.

PubMed [citation]

PMID:: 28111830

Details of each submission

From Counsyl, SCV000797117.1

#	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

Last Updated: Oct 26, 2024

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