NM_000531.6(OTC):c.912G>T (p.Leu304Phe) AND not provided

Germline classification:: Pathogenic (1 submission)
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:: RCV000083607.1

Allele description [Variation Report for NM_000531.6(OTC):c.912G>T (p.Leu304Phe)]

NM_000531.6(OTC):c.912G>T (p.Leu304Phe)

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.912G>T (p.Leu304Phe)

Other names:

L272F

HGVS:

NC_000023.11:g.38411906G>T
NG_008471.1:g.64424G>T
NM_000531.6:c.912G>TMANE SELECT
NP_000522.3:p.Leu304Phe
LRG_846t1:c.912G>T
LRG_846:g.64424G>T
LRG_846p1:p.Leu304Phe
NC_000023.10:g.38271159G>T
NM_000531.5:c.912G>T
P00480:p.Leu304Phe

Protein change:

L304F; LEU272PHE

Links:

UniProtKB: P00480#VAR_004936; OMIM: 300461.0023; dbSNP: rs72558465

NCBI 1000 Genomes Browser:

rs72558465

Molecular consequence:

NM_000531.6:c.912G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115693	GenMed Metabolism Lab	no assertion criteria provided	pathogenic	unknown	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115693

GenMed Metabolism Lab

no assertion criteria provided

pathogenic

unknown

not provided

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

Description

p.Leu304Phe, Late, Ornithine binding site: SCV000115693

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.

Tuchman M, Holzknecht RA, Gueron AB, Berry SA, Tsai MY.

Pediatr Res. 1992 Nov;32(5):600-4.

PubMed [citation]

PMID:: 1480464

Details of each submission

From GenMed Metabolism Lab, SCV000115693.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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