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NM_000531.6(OTC):c.298+5G>C AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 9, 2016
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:
RCV002313837.9

Allele description [Variation Report for NM_000531.6(OTC):c.298+5G>C]

NM_000531.6(OTC):c.298+5G>C

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.298+5G>C
HGVS:
  • NC_000023.11:g.38369882G>C
  • NG_008471.1:g.22400G>C
  • NM_000531.6:c.298+5G>CMANE SELECT
  • LRG_846t1:c.298+5G>C
  • LRG_846:g.22400G>C
  • NC_000023.10:g.38229135G>C
  • NM_000531.5:c.298+5G>C
Links:
dbSNP: rs72554348
NCBI 1000 Genomes Browser:
rs72554348
Molecular consequence:
  • NM_000531.6:c.298+5G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000849237Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Nov 9, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000849237.5

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024