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NM_000531.6(OTC):c.374C>T (p.Thr125Met) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Feb 28, 2018
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:
RCV000083408.1

Allele description

NM_000531.6(OTC):c.374C>T (p.Thr125Met)

Gene:
OTC:ornithine carbamoyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
HGVS:
  • NC_000023.11:g.38381417C>T
  • NG_008471.1:g.33935C>T
  • NM_000531.6:c.374C>T
  • NP_000522.3:p.Thr125Met
  • NC_000023.10:g.38240670C>T
  • NM_000531.5:c.374C>T
  • P00480:p.Thr125Met
Protein change:
T125M
Links:
UniProtKB: P00480#VAR_004874; dbSNP: rs72554356
NCBI 1000 Genomes Browser:
rs72554356
Molecular consequence:
  • NM_000531.6:c.374C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115494GenMed Metabolism Lab
no assertion criteria provided
pathogenicunknownnot provided

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

SCV000780968CeGaT Praxis fuer Humangenetik Tuebingen
criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)		Uncertain significance
(Feb 28, 2018) 		germlineclinical testing

Citation Link

Description

p.Thr125Met, Neonatal

SCV000115494

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.

Gilbert-Dussardier B, Segues B, Rozet JM, Rabier D, Calvas P, de Lumley L, Bonnefond JP, Munnich A.

Hum Mutat. 1996;8(1):74-6. No abstract available.

PubMed [citation]
PMID:
8807340

Details of each submission

From GenMed Metabolism Lab, SCV000115494.1

#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 CeGaT Praxis fuer Humangenetik Tuebingen, SCV000780968.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jan 4, 2020