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NM_198253.2(TERT):c.-1382T>C 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:
RCV000498732.2

Allele description [Variation Report for NM_198253.2(TERT):c.-1382T>C]

NM_198253.2(TERT):c.-1382T>C

Genes:
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
LOC110806263:TERT 5' regulatory region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_198253.2(TERT):c.-1382T>C
HGVS:
  • NC_000005.10:g.1296371A>G
  • NG_009265.1:g.3677T>C
  • NG_055467.1:g.1844A>G
  • LRG_343:g.3677T>C
  • NC_000005.9:g.1296486A>G
Nucleotide change:
-1327T-C
Links:
OMIM: 187270.0006; dbSNP: rs2735940
NCBI 1000 Genomes Browser:
rs2735940

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
SCV000494461Department 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-inconclusiveyes98not providednot providednot providednot providedcase-control
Chinese Han peopletested-inconclusiveno124not providednot providednot providednot providedcase-control

Details of each submission

From Department of Orthopeadics and Traumatology, Nanfang Hospital, SCV000494461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese Han people49not providednot providedcase-controlnot provided
2Chinese Han people62not providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1tested-inconclusiveyesnot providednot providednot provided49not providednot providednot provided
2tested-inconclusivenonot providednot providednot provided62not providednot providednot provided

Last Updated: Dec 24, 2023