NR_001566.1(TERC):n.54_57delAACT

Variation ID: Help
30265
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 10, 2012
Number of submission(s):
2
Condition(s):
Dyskeratosis congenita autosomal dominant[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NR_001566.1(TERC):n.54_57delAACT

Allele ID:
39221
Variant type:
Deletion
Cytogenetic location:
3q26.2
Genomic location:
  • Chr3: 169765004 - 169765007 (on Assembly GRCh38)
  • Chr3: 169482792 - 169482795 (on Assembly GRCh37)
Other names:
  • NR_001566.1:r.52_55delcuaa
HGVS:
  • NG_016363.1:g.5054_5057delAACT
  • NC_000003.12:g.169765004_169765007delAGTT (GRCh38)
  • NR_001566.1:n.54_57delAACT
  • NC_000003.11:g.169482792_169482795delAGTT (GRCh37)
  • LRG_347:g.5054_5057delAACT
  • NR_001566.1:r.54_57delaacu
Note:
NCBI staff reviewed the sequence information reported in PubMed 22341970 Fig. 2 to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs199422263
Molecular consequence:
NR_001566.1:n.54_57delAACT: non-coding transcript variant [Sequence Ontology SO:0001619]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Mar 9, 2012)
no assertion criteria providedliterature only
  • Dyskeratosis congenita autosomal dominant[MedGen | OMIM]
unknownOMIMSCV000044483.2
Pathogenic
(May 10, 2012)
no assertion criteria providedliterature only
  • Dyskeratosis congenita autosomal dominant[MedGen | OMIM]
not providedGeneReviewsSCV000056251.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providednot provided, unknownnot providednot provided
GeneReviewsnot providednot providednot providednot providednot providednot provided
OMIMnot providednot providedunknownnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 8, 2017