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NM_000531.6(OTC):c.-48G>T AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 16, 2022
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:
RCV003128795.1

Allele description [Variation Report for NM_000531.6(OTC):c.-48G>T]

NM_000531.6(OTC):c.-48G>T

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.-48G>T
HGVS:
  • NC_000023.11:g.38352649G>T
  • NG_008471.1:g.5167G>T
  • NM_000531.6:c.-48G>TMANE SELECT
  • LRG_846t1:c.-48G>T
  • LRG_846:g.5167G>T
  • NC_000023.10:g.38211902G>T
  • NM_000531.5:c.-48G>T
Links:
dbSNP: rs182454762
NCBI 1000 Genomes Browser:
rs182454762
Molecular consequence:
  • NM_000531.6:c.-48G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003805538GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Feb 16, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003805538.1

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

Description

See Variant Classification Assertion Criteria.

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

Last Updated: Dec 24, 2023