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NM_054012.4(ASS1):c.773+4_773+31dup AND Citrullinemia type I

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 5, 2017
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:
RCV000779574.4

Allele description [Variation Report for NM_054012.4(ASS1):c.773+4_773+31dup]

NM_054012.4(ASS1):c.773+4_773+31dup

Gene:
ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_054012.4(ASS1):c.773+4_773+31dup
HGVS:
  • NC_000009.12:g.130479804_130479831dup
  • NG_011542.1:g.40098_40125dup
  • NG_053681.1:g.1651_1652insGCAGCCCTGTCCGGCCTCTTGAGTGTCTGCAGCCCTGTCCGGCCTCTTG
  • NM_000050.4:c.773+4_773+31dup
  • NM_054012.4:c.773+4_773+31dupMANE SELECT
  • NC_000009.11:g.133355188_133355189insTGAGTGTCTGCAGCCCTGTCCGGCCTCT
  • NC_000009.11:g.133355191_133355218dup
  • NM_054012.3:c.773+4_773+31dupAGTGTCTGCAGCCCTGTCCGGCCTCTTG
Links:
dbSNP: rs768271017
NCBI 1000 Genomes Browser:
rs768271017
Molecular consequence:
  • NM_000050.4:c.773+4_773+31dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_054012.4:c.773+4_773+31dup - splice donor variant - [Sequence Ontology: SO:0001575]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000916252Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Oct 5, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000916252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ASS1 c.773+4_773+31dupAGTGTCTGCAGCCCTGTCCGGCCTCTTG variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for citrullinemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population

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

Last Updated: Apr 15, 2024