NC_012920.1(MT-ND4):m.12007G>A AND Venous thromboembolism

Germline classification:: Benign (1 submission)
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:: RCV003887815.1

Allele description [Variation Report for NC_012920.1(MT-ND4):m.12007G>A]

NC_012920.1(MT-ND4):m.12007G>A

Gene:

MT-ND4:mitochondrially encoded NADH dehydrogenase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ND4):m.12007G>A

HGVS:

NC_012920.1:m.12007G>A

Links:

dbSNP: rs2853497

NCBI 1000 Genomes Browser:

rs2853497

Condition(s)

Name:: Venous thromboembolism
Identifiers:: MONDO: MONDO:0005399; MeSH: D054556; MedGen: C1861172

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004698207	Genomics Division, Defence Institute of Physiology and Allied Sciences	no assertion criteria provided	Benign	maternal	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004698207

Genomics Division, Defence Institute of Physiology and Allied Sciences

no assertion criteria provided

Benign

maternal

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	maternal	no	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Genomics Division, Defence Institute of Physiology and Allied Sciences, SCV004698207.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	not provided	not provided	not provided	case-control	not provided

Description

Three age and sex matched study groups were taken and whole exome sequencing was performed. 1. Healthy Subjects (n=19) 2. Sea Level Venous Thromboembolism (n=15) 3. High Altitude Venous Thromboembolism (n=6) This variant is benign in nature. After analysis we found frequency of rs2853497 in only high altitude induced Thromboembolism study groups. However, this SNP was absent in Healthy Subjects and sea level Thromboembolism study groups. First time it is being reported that there is association of rs2853497with Venous Thromboembolism.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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