NC_012920.1(MT-CO1):m.6497T>C AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 14, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001288246.2

Allele description [Variation Report for NC_012920.1(MT-CO1):m.6497T>C]

NC_012920.1(MT-CO1):m.6497T>C

Gene:

MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-CO1):m.6497T>C

HGVS:

NC_012920.1:m.6497T>C

Links:

dbSNP: rs1556423143

NCBI 1000 Genomes Browser:

rs1556423143

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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capn3a [Ctenopharyngodon idella]
capn3a [Ctenopharyngodon idella]
Gene ID:127498978

Gene
Ckmt1 creatine kinase, mitochondrial 1 [Rattus norvegicus]
Ckmt1 creatine kinase, mitochondrial 1 [Rattus norvegicus]
Gene ID:29593

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001475220	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Apr 14, 2020)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24006865, 22130971, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001475220

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Apr 14, 2020)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Detecting the somatic mutations spectrum of Chinese lung cancer by analyzing the whole mitochondrial DNA genomes.

Fang Y, Huang J, Zhang J, Wang J, Qiao F, Chen HM, Hong ZP.

Mitochondrial DNA. 2015 Feb;26(1):56-60. doi: 10.3109/19401736.2013.823168. Epub 2013 Sep 6.

PubMed [citation]

PMID:: 24006865

Deciphering the signature of selective constraints on cancerous mitochondrial genome.

Liu J, Wang LD, Sun YB, Li EM, Xu LY, Zhang YP, Yao YG, Kong QP.

Mol Biol Evol. 2012 Apr;29(4):1255-61. doi: 10.1093/molbev/msr290. Epub 2011 Nov 29.

PubMed [citation]

PMID:: 22130971

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV001475220.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: May 7, 2024

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