NM_000531.6(OTC):c.674C>T (p.Pro225Leu) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000083536.2

Allele description [Variation Report for NM_000531.6(OTC):c.674C>T (p.Pro225Leu)]

NM_000531.6(OTC):c.674C>T (p.Pro225Leu)

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.674C>T (p.Pro225Leu)
HGVS:
  • NC_000023.11:g.38408752C>T
  • NG_008471.1:g.61270C>T
  • NM_000531.6:c.674C>TMANE SELECT
  • NP_000522.3:p.Pro225Leu
  • LRG_846t1:c.674C>T
  • LRG_846:g.61270C>T
  • LRG_846p1:p.Pro225Leu
  • NC_000023.10:g.38268005C>T
  • NM_000531.5:c.674C>T
  • P00480:p.Pro225Leu
Protein change:
P225L; PRO225LEU
Links:
UniProtKB: P00480#VAR_004913; OMIM: 300461.0015; dbSNP: rs67120076
NCBI 1000 Genomes Browser:
rs67120076
Molecular consequence:
  • NM_000531.6:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115622GenMed Metabolism Labno assertion criteria providedpathogenicunknownnot provided

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

SCV000330994EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 3, 2015)
germlineclinical testing

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

Citation Link

Description

p.Pro225Leu, Neonatal

SCV000115622

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A.

Hum Genet. 1991 Dec;88(2):153-6.

PubMed [citation]
PMID:
1721894

Details of each submission

From GenMed Metabolism Lab, SCV000115622.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000330994.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Sep 6, 2021

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