NM_000531.6(OTC):c.717+3A>G 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:: RCV000083545.1

Allele description [Variation Report for NM_000531.6(OTC):c.717+3A>G]

NM_000531.6(OTC):c.717+3A>G

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.717+3A>G

HGVS:

NC_000023.11:g.38408798A>G
NG_008471.1:g.61316A>G
NM_000531.6:c.717+3A>GMANE SELECT
LRG_846t1:c.717+3A>G
LRG_846:g.61316A>G
NC_000023.10:g.38268051A>G
NM_000531.5:c.717+3A>G

Nucleotide change:

IVS7DS, A-G, +3

Links:

OMIM: 300461.0012; dbSNP: rs72558432

NCBI 1000 Genomes Browser:

rs72558432

Molecular consequence:

NM_000531.6:c.717+3A>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000115631	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

SCV000115631

GenMed Metabolism Lab

no assertion criteria provided

pathogenic

unknown

not provided

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

Description

Neonatal, Donor splice site error, skipping exon 7: SCV000115631

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

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

Carstens RP, Fenton WA, Rosenberg LR.

Am J Hum Genet. 1991 Jun;48(6):1105-14.

PubMed [citation]

PMID:: 2035531
PMCID:: PMC1683104

Details of each submission

From GenMed Metabolism Lab, SCV000115631.1

#	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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