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NM_198253.3(TERT):c.1951-205G>A AND Chronic osteomyelitis

Germline classification:
association (1 submission)
Last evaluated:
Sep 1, 2016
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:
RCV000498605.9

Allele description [Variation Report for NM_198253.3(TERT):c.1951-205G>A]

NM_198253.3(TERT):c.1951-205G>A

Gene:
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_198253.3(TERT):c.1951-205G>A
HGVS:
  • NC_000005.10:g.1279675C>T
  • NG_009265.1:g.20373G>A
  • NM_001193376.3:c.1951-205G>A
  • NM_198253.3:c.1951-205G>AMANE SELECT
  • LRG_343t1:c.1951-205G>A
  • LRG_343:g.20373G>A
  • NC_000005.9:g.1279790C>T
  • NM_198253.2:c.1951-205G>A
Links:
Genetic Testing Registry (GTR): GTR000500060; dbSNP: rs10069690
NCBI 1000 Genomes Browser:
rs10069690
Molecular consequence:
  • NM_001193376.3:c.1951-205G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198253.3:c.1951-205G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Chronic osteomyelitis
Identifiers:
MedGen: C0008707

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494458Department of Orthopeadics and Traumatology, Nanfang Hospital
no assertion criteria provided
association
(Sep 1, 2016)
tested-inconclusivecase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinese Han peopletested-inconclusiveno64not providednot providednot providednot providedcase-control
Chinese Han peopletested-inconclusiveyes26not providednot providednot providednot providedcase-control

Details of each submission

From Department of Orthopeadics and Traumatology, Nanfang Hospital, SCV000494458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese Han people13not providednot providedcase-controlnot provided
2Chinese Han people32not providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1tested-inconclusiveyesnot providednot providednot provided13not providednot providednot provided
2tested-inconclusivenonot providednot providednot provided32not providednot providednot provided

Last Updated: Jul 23, 2024