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NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys) AND Hyperammonemia, type III

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 17, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001274705.9

Allele description [Variation Report for NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys)]

NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys)

Gene:
NAGS:N-acetylglutamate synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys)
HGVS:
  • NC_000017.11:g.44007768T>A
  • NG_008106.1:g.8105T>A
  • NG_023338.1:g.1702A>T
  • NM_153006.3:c.1446T>AMANE SELECT
  • NP_694551.1:p.Asn482Lys
  • NC_000017.10:g.42085136T>A
  • NM_153006.2:c.1446T>A
Protein change:
N482K
Links:
dbSNP: rs915618486
NCBI 1000 Genomes Browser:
rs915618486
Molecular consequence:
  • NM_153006.3:c.1446T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperammonemia, type III (NAGSD)
Synonyms:
NAG synthetase deficiency; Hyperammonemia due to N-acetylglutamate synthase deficiency
Identifiers:
MONDO: MONDO:0009377; MedGen: C0268543; Orphanet: 927; OMIM: 237310

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001459084Natera, Inc.
no assertion criteria provided
Uncertain significance
(Mar 17, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001459084.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024