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NR_001566.3(TERC):n.108_111delCTGA AND Aplastic anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 2012
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:
RCV000032556.2

Allele description [Variation Report for NR_001566.3(TERC):n.108_111delCTGA]

NR_001566.3(TERC):n.108_111delCTGA

Genes:
LOC110806306:telomerase RNA component (TERC) promoter [Gene]
TERC:telomerase RNA component [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q26.2
Genomic location:
Preferred name:
NR_001566.3(TERC):n.108_111delCTGA
HGVS:
  • NC_000003.12:g.169764950_169764953del
  • NG_016363.1:g.5110_5113del
  • NG_055509.2:g.362_365del
  • LRG_347t1:n.110_113del
  • LRG_347:g.5110_5113del
  • NC_000003.11:g.169482736_169482739del
  • NC_000003.11:g.169482738_169482741del
  • NG_055509.1:g.59_62del
  • NR_001566.1:c.110_113delgact
  • NR_001566.1:n.110_113del
  • NR_001566.2:n.108_111delCTGA
  • NR_001566.3:n.108_111delCTGA
  • NR_001566.1:c.110_113delgact
Links:
OMIM: 602322.0006; dbSNP: rs199422270
NCBI 1000 Genomes Browser:
rs199422270

Condition(s)

Name:
Aplastic anemia
Identifiers:
MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056228GeneReviews
no assertion criteria provided
pathologic
(May 10, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000056228.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2024