NM_198253.2(TERT):c.-1382T>C AND Coronary artery disease, susceptibility to

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 2006
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:: RCV001787099.1

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:: Coronary artery disease, susceptibility to
Identifiers:: MedGen: C1840169

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033818	OMIM	no assertion criteria provided	Uncertain significance (Sep 22, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033818

OMIM

no assertion criteria provided

Uncertain significance
(Sep 22, 2006)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Coronary artery disease and a functional polymorphism of hTERT.

Matsubara Y, Murata M, Watanabe K, Saito I, Miyaki K, Omae K, Ishikawa M, Matsushita K, Iwanaga S, Ogawa S, Ikeda Y.

Biochem Biophys Res Commun. 2006 Sep 22;348(2):669-72. Epub 2006 Jul 28.

PubMed [citation]

PMID:: 16890917

Details of each submission

From OMIM, SCV000033818.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

This variant, formerly titled CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, has been reclassified because its contribution to the disease has not been confirmed.

Matsubara et al. (2006) examined the -1327T-C promoter polymorphism in 104 Japanese male patients with coronary artery disease (CAD) and 115 age-matched male controls and found an association between the -1327 CC genotype and CAD (p = 0.0218). Among the 104 CAD patients, the CC genotype was also associated with shorter telomere length (p = 0.0287). Matsubara et al. (2006) suggested that the -1327 CC genotype is a risk factor for CAD and that it relates to shorter telomere length among CAD patients.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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