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NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 28, 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:
RCV000756453.8

Allele description [Variation Report for NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)]

NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)

Gene:
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)
HGVS:
  • NC_000023.11:g.38421036C>T
  • NG_008471.1:g.73554C>T
  • NM_000531.6:c.1019C>TMANE SELECT
  • NP_000522.3:p.Ser340Phe
  • LRG_846t1:c.1019C>T
  • LRG_846:g.73554C>T
  • LRG_846p1:p.Ser340Phe
  • NC_000023.10:g.38280289C>T
  • NM_000531.5:c.1019C>T
Protein change:
S340F
Links:
dbSNP: rs1569282905
NCBI 1000 Genomes Browser:
rs1569282905
Molecular consequence:
  • NM_000531.6:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000884273ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Uncertain significance
(Dec 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884273.1

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

Description

The OTC c.1019C>T; p.Ser340Phe variant is not reported in the medical literature, gene-specific variant databases, or in the ClinVar database. The variant is not listed in the dbSNP variant database or in the general population databases (Exome Variant Server, Genome Aggregation Database). Another variant in the same codon, p.Ser340Pro, is reported in the medical literature in two individuals with OTC deficiency (Martin-Hernandez 2014, Oppliger Leibundgut 1997). The serine at this position is moderately conserved and computational algorithms (PolyPhen2, SIFT) predict the variant is deleterious. Considering available information, the clinical significance of this variant cannot be determined with certainty. References: Martin-Hernandez E et al. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. Orphanet J Rare Dis. 2014 Nov 30;9:187. Oppliger Leibundgut E et al. Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females. Hum Mutat. 1997;9(5):409-11.

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

Last Updated: Feb 20, 2024