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NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter) AND Citrullinemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 17, 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:
RCV001042848.5

Allele description [Variation Report for NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)]

NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)

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.846C>A (p.Tyr282Ter)
HGVS:
  • NC_000009.12:g.130489340C>A
  • NG_011542.1:g.49634C>A
  • NM_000050.4:c.846C>A
  • NM_054012.4:c.846C>AMANE SELECT
  • NP_000041.2:p.Tyr282Ter
  • NP_446464.1:p.Tyr282Ter
  • NC_000009.11:g.133364727C>A
Protein change:
Y282*
Links:
dbSNP: rs549085827
NCBI 1000 Genomes Browser:
rs549085827
Molecular consequence:
  • NM_000050.4:c.846C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_054012.4:c.846C>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001206554Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 17, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 (3)

Details of each submission

From Invitae, SCV001206554.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Tyr282*) 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 (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ASS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 840768). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024