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NM_001012759.3(CTU2):c.873+5G>A AND Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2019
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:
RCV000984929.1

Allele description [Variation Report for NM_001012759.3(CTU2):c.873+5G>A]

NM_001012759.3(CTU2):c.873+5G>A

Gene:
CTU2:cytosolic thiouridylase subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_001012759.3(CTU2):c.873+5G>A
HGVS:
  • NC_000016.10:g.88713452G>A
  • NG_042229.1:g.76769C>T
  • NM_001012759.3:c.873+5G>AMANE SELECT
  • NM_001012762.3:c.873+5G>A
  • NM_001318507.2:c.1086+5G>A
  • NM_001318513.2:c.612+5G>A
  • LRG_1137:g.76769C>T
  • NC_000016.9:g.88779860G>A
  • NM_001318507.1:c.1086+5G>A
Links:
dbSNP: rs1597431437
NCBI 1000 Genomes Browser:
rs1597431437
Molecular consequence:
  • NM_001012759.3:c.873+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001012762.3:c.873+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318507.2:c.1086+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318513.2:c.612+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Identifiers:
MONDO: MONDO:0020647; MedGen: C4748348; OMIM: 618142

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132841Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Uncertain significance
(Jan 29, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001132841.1

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

Last Updated: Apr 23, 2022